نتائج البحث - "Keough, KC"

المؤلفون: Sachdev A; Gladstone Institutes, San Francisco, CA 94158., Gill K; Gladstone Institutes, San Francisco, CA 94158.; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158., Sckaff M; Gladstone Institutes, San Francisco, CA 94158.; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158., Birk AM; Gladstone Institutes, San Francisco, CA 94158., Aladesuyi Arogundade O; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158.; Memory & Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA 94158., Brown KA; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158.; Memory & Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA 94158., Chouhan RS; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158.; Memory & Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA 94158., Issagholian-Lewin PO; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158.; Memory & Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA 94158., Patel E; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158.; Memory & Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA 94158., Watry HL; Gladstone Institutes, San Francisco, CA 94158., Bernardi MT; Gladstone Institutes, San Francisco, CA 94158., Keough KC; Gladstone Institutes, San Francisco, CA 94158., Tsai YC; Pacific Biosciences, Menlo Park, CA 94025., Smith AST; Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195.; The Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA 98195., Conklin BR; Gladstone Institutes, San Francisco, CA 94158.; Department of Medicine, University of California San Francisco, San Francisco, CA 94143.; Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143.; Department of Pharmacology, University of California San Francisco, San Francisco, CA 94158., Clelland CD; Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158.; Memory & Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA 94158.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Apr 23; Vol. 121 (17), pp. e2307814121. Date of Electronic Publication: 2024 Apr 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/metabolism , Frontotemporal Dementia*/metabolism, Humans ; C9orf72 Protein/genetics ; C9orf72 Protein/metabolism ; Alleles ; Motor Neurons/metabolism ; Mutation ; DNA Repeat Expansion/genetics ; Dipeptides/metabolism

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دورية أكاديمية

Vocal learning-associated convergent evolution in mammalian proteins and regulatory elements.

المؤلفون: Wirthlin ME; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA.; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Schmid TA; Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA 94708, USA., Elie JE; Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA 94708, USA.; Department of Bioengineering, University of California, Berkeley, Berkeley, CA 94708, USA., Zhang X; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Kowalczyk A; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA.; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Redlich R; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Shvareva VA; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94708, USA., Rakuljic A; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94708, USA., Ji MB; Department of Psychology, University of California, Berkeley, Berkeley, CA 94708, USA., Bhat NS; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94708, USA., Kaplow IM; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA.; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Schäffer DE; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Lawler AJ; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA.; Department of Biological Sciences, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Wang AZ; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Phan BN; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA.; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Annaldasula S; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Brown AR; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA.; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Lu T; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Lim BK; Neurobiology section, Division of Biological Science, University of California, San Diego, La Jolla, CA 92093, USA., Azim E; Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Clark NL; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA 15213, USA., Meyer WK; Department of Biological Sciences, Lehigh University, Bethlehem, PA 18015, USA., Pond SLK; Department of Biology, Temple University, Philadelphia, PA 19122, USA., Chikina M; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Yartsev MM; Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, CA 94708, USA.; Department of Bioengineering, University of California, Berkeley, Berkeley, CA 94708, USA., Pfenning AR; Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA.; Neuroscience Institute, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Andrews G, Armstrong JC, Bianchi M, Birren BW, Bredemeyer KR, Breit AM, Christmas MJ, Clawson H, Damas J, Di Palma F, Diekhans M, Dong MX, Eizirik E, Fan K, Fanter C, Foley NM, Forsberg-Nilsson K, Garcia CJ, Gatesy J, Gazal S, Genereux DP, Goodman L, Grimshaw J, Halsey MK, Harris AJ, Hickey G, Hiller M, Hindle AG, Hubley RM, Hughes GM, Johnson J, Juan D, Kaplow IM, Karlsson EK, Keough KC, Kirilenko B, Koepfli KP, Korstian JM, Kowalczyk A, Kozyrev SV, Lawler AJ, Lawless C, Lehmann T, Levesque DL, Lewin HA, Li X, Lind A, Lindblad-Toh K, Mackay-Smith A, Marinescu VD, Marques-Bonet T, Mason VC, Meadows JRS, Meyer WK, Moore JE, Moreira LR, Moreno-Santillan DD, Morrill KM, Muntané G, Murphy WJ, Navarro A, Nweeia M, Ortmann S, Osmanski A, Paten B, Paulat NS, Pfenning AR, Phan BN, Pollard KS, Pratt HE, Ray DA, Reilly SK, Rosen JR, Ruf I, Ryan L, Ryder OA, Sabeti PC, Schäffer DE, Serres A, Shapiro B, Smit AFA, Springer M, Srinivasan C, Steiner C, Storer JM, Sullivan KAM, Sullivan PF, Sundström E, Supple MA, Swofford R, Talbot JE, Teeling E, Turner-Maier J, Valenzuela A, Wagner F, Wallerman O, Wang C, Wang J, Weng Z, Wilder AP, Wirthlin ME, Xue JR, Zhang X

مؤلفون مشاركون: Zoonomia Consortium

المصدر: Science (New York, N.Y.) [Science] 2024 Mar 29; Vol. 383 (6690), pp. eabn3263. Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Vocalization, Animal*/physiology , Motor Cortex*/cytology , Motor Cortex*/physiology , Enhancer Elements, Genetic* , Motor Neurons*/physiology , Gene Expression Regulation* , Evolution, Molecular* , Proteins*/genetics , Proteins*/metabolism , Eutheria*/genetics , Eutheria*/physiology, Animals ; Chiroptera/genetics ; Chiroptera/physiology ; Chromatin/metabolism ; Larynx/physiology ; Epigenesis, Genetic ; Genome ; Amino Acid Sequence ; Machine Learning

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دورية أكاديمية

Three-dimensional genome rewiring in loci with human accelerated regions.

المؤلفون: Keough KC; Gladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA.; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Whalen S; Gladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA., Inoue F; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Przytycki PF; Gladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA., Fair T; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; Department of Anatomy, University of California San Francisco, San Francisco, CA, USA., Deng C; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Steyert M; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; Department of Anatomy, University of California San Francisco, San Francisco, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California San Francisco, San Francisco, CA, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California San Francisco, San Francisco, CA, USA., Ryu H; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Lindblad-Toh K; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Karlsson E; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School, Worcester, MA, USA.; Program in Molecular Medicine, UMass Chan Medical School, Worcester, MA, USA., Nowakowski T; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; Department of Anatomy, University of California San Francisco, San Francisco, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California San Francisco, San Francisco, CA, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California San Francisco, San Francisco, CA, USA., Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Pollen A; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California San Francisco, San Francisco, CA, USA.; Department of Neurology, University of California San Francisco, San Francisco, CA, USA., Pollard KS; Gladstone Institute of Data Science and Biotechnology, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology & Biostatistics and Bakar Institute for Computational Health Sciences, University of California San Francisco, San Francisco, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA.

مؤلفون مشاركون: Zoonomia Consortium§

المصدر: Science (New York, N.Y.) [Science] 2023 Apr 28; Vol. 380 (6643), pp. eabm1696. Date of Electronic Publication: 2023 Apr 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Loci* , Neurogenesis*/genetics, Animals ; Humans ; Chromatin/genetics ; Genome, Human ; Genomics ; Pan troglodytes/genetics ; Deep Learning

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Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease.

المؤلفون: Sullivan PF; Department of Genetics, University of North Carolina Medical School; Chapel Hill, NC 27599, USA.; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet; Stockholm, Sweden., Meadows JRS; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden., Gazal S; Keck School of Medicine, University of Southern California; Los Angeles, CA 90033, USA., Phan BN; Department of Computational Biology, School of Computer Science, Carnegie Mellon University; Pittsburgh, PA 15213, USA.; Medical Scientist Training Program, University of Pittsburgh School of Medicine; Pittsburgh, PA 15261, USA.; Neuroscience Institute, Carnegie Mellon University; Pittsburgh, PA 15213, USA., Li X; Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA.; Morningside Graduate School of Biomedical Sciences, UMass Chan Medical School; Worcester, MA 01605, USA.; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School; Worcester, MA 01605, USA., Genereux DP; Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA., Dong MX; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden., Bianchi M; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden., Andrews G; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School; Worcester, MA 01605, USA., Sakthikumar S; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden.; Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA., Nordin J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University; Uppsala, 751 85, Sweden., Roy A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University; Uppsala, 751 85, Sweden., Christmas MJ; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden., Marinescu VD; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden., Wallerman O; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden., Xue JR; Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA.; Department of Organismic and Evolutionary Biology, Harvard University; Cambridge, MA 02138, USA., Li Y; Department of Genetics, University of North Carolina Medical School; Chapel Hill, NC 27599, USA., Yao S; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet; Stockholm, Sweden., Sun Q; Department of Biostatistics, University of North Carolina at Chapel Hill; Chapel Hill, NC, USA., Szatkiewicz J; Department of Genetics, University of North Carolina Medical School; Chapel Hill, NC 27599, USA., Wen J; Department of Genetics, University of North Carolina Medical School; Chapel Hill, NC 27599, USA., Huckins LM; Department of Psychiatry, Icahn School of Medicine at Mount Sinai; New York, NY 10029, USA., Lawler AJ; Neuroscience Institute, Carnegie Mellon University; Pittsburgh, PA 15213, USA.; Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA.; Department of Biological Sciences, Mellon College of Science, Carnegie Mellon University; Pittsburgh, PA 15213, USA., Keough KC; Department of Epidemiology & Biostatistics, University of California San Francisco; San Francisco, CA 94158, USA.; Fauna Bio Incorporated; Emeryville, CA 94608, USA.; Gladstone Institutes; San Francisco, CA 94158, USA., Zheng Z; Institute for Molecular Bioscience, University of Queensland; Brisbane, Queensland, Australia., Zeng J; Institute for Molecular Bioscience, University of Queensland; Brisbane, Queensland, Australia., Wray NR; Institute for Molecular Bioscience, University of Queensland; Brisbane, Queensland, Australia.; Queensland Brain Institute, University of Queensland; Brisbane, Queensland, Australia., Johnson J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai; New York, NY 10029, USA., Chen J; Department of Biostatistics, University of North Carolina at Chapel Hill; Chapel Hill, NC, USA., Paten B; Genomics Institute, University of California Santa Cruz; Santa Cruz, CA 95064, USA., Reilly SK; Department of Genetics, Yale School of Medicine; New Haven, CT 06510, USA., Hughes GM; School of Biology and Environmental Science, University College Dublin; Belfield, Dublin 4, Ireland., Weng Z; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School; Worcester, MA 01605, USA., Pollard KS; Department of Epidemiology & Biostatistics, University of California San Francisco; San Francisco, CA 94158, USA.; Gladstone Institutes; San Francisco, CA 94158, USA.; Chan Zuckerberg Biohub; San Francisco, CA 94158, USA., Pfenning AR; Department of Computational Biology, School of Computer Science, Carnegie Mellon University; Pittsburgh, PA 15213, USA.; Neuroscience Institute, Carnegie Mellon University; Pittsburgh, PA 15213, USA., Forsberg-Nilsson K; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University; Uppsala, 751 85, Sweden.; Biodiscovery Institute, University of Nottingham; Nottingham, UK., Karlsson EK; Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA.; Program in Bioinformatics and Integrative Biology, UMass Chan Medical School; Worcester, MA 01605, USA.; Program in Molecular Medicine, UMass Chan Medical School; Worcester, MA 01605, USA., Lindblad-Toh K; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Uppsala University; Uppsala, 751 32, Sweden.; Broad Institute of MIT and Harvard; Cambridge, MA 02139, USA.

مؤلفون مشاركون: Zoonomia Consortium

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Mar 10. Date of Electronic Publication: 2023 Mar 10.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

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دورية أكاديمية

An atlas of lamina-associated chromatin across twelve human cell types reveals an intermediate chromatin subtype.

المؤلفون: Shah PP; Departments of Medicine and Cell and Developmental Biology, Penn CVI, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Smilow TRC, 3400 Civic Center Blvd, Philadelphia, PA, 19104, USA., Keough KC; University of California, San Francisco, CA, 94117, USA.; Gladstone Institute of Data Science and Biotechnology, 1650 Owens Street, San Francisco, CA, 94158, USA., Gjoni K; University of California, San Francisco, CA, 94117, USA.; Gladstone Institute of Data Science and Biotechnology, 1650 Owens Street, San Francisco, CA, 94158, USA., Santini GT; Departments of Medicine and Cell and Developmental Biology, Penn CVI, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Smilow TRC, 3400 Civic Center Blvd, Philadelphia, PA, 19104, USA., Abdill RJ; Departments of Medicine and Cell and Developmental Biology, Penn CVI, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Smilow TRC, 3400 Civic Center Blvd, Philadelphia, PA, 19104, USA., Wickramasinghe NM; Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Dundes CE; Department of Developmental Biology and Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Karnay A; Departments of Medicine and Cell and Developmental Biology, Penn CVI, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Smilow TRC, 3400 Civic Center Blvd, Philadelphia, PA, 19104, USA., Chen A; Department of Developmental Biology and Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Salomon REA; Department of Developmental Biology and Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Walsh PJ; Department of Genetics, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Nguyen SC; Department of Genetics, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Whalen S; Gladstone Institute of Data Science and Biotechnology, 1650 Owens Street, San Francisco, CA, 94158, USA., Joyce EF; Department of Genetics, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Loh KM; Department of Developmental Biology and Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Dubois N; Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Pollard KS; University of California, San Francisco, CA, 94117, USA. kpollard@gladstone.ucsf.edu.; Gladstone Institute of Data Science and Biotechnology, 1650 Owens Street, San Francisco, CA, 94158, USA. kpollard@gladstone.ucsf.edu.; Chan Zuckerberg Biohub, San Francisco, CA, 94158, USA. kpollard@gladstone.ucsf.edu., Jain R; Departments of Medicine and Cell and Developmental Biology, Penn CVI, Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Smilow TRC, 3400 Civic Center Blvd, Philadelphia, PA, 19104, USA. jainr@pennmedicine.upenn.edu.; Smilow TRC, 3400 Civic Center Blvd, Philadelphia, PA, 19104, USA. jainr@pennmedicine.upenn.edu.

المصدر: Genome biology [Genome Biol] 2023 Jan 23; Vol. 24 (1), pp. 16. Date of Electronic Publication: 2023 Jan 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin*/metabolism , Nuclear Lamina*/genetics, Humans ; Cell Nucleus/genetics ; Chromatin Assembly and Disassembly ; Cell Differentiation

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9

دورية أكاديمية

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

المؤلفون: Khalaf-Nazzal R; Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin P227, Palestine., Fasham J; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, UK., Inskeep KA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH 43205, USA., Blizzard LE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA., Leslie JS; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK., Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK., Ubeyratna N; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Griffith JL; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Baker W; Paediatrics Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine., Al-Hijawi F; Paediatrics Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine., Keough KC; Department of Pediatrics, Dell Medical School, 1400 Barbara Jordan Boulevard, Austin, TX 78723, USA; Child Neurology Consultants of Austin, 7940 Shoal Creek Boulevard, Suite 100, Austin, TX 78757, USA., Gezdirici A; Department of Medical Genetics, Başakşehir Çam and Sakura City Hospital, 34480 Istanbul, Turkey., Pena L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Spaeth CG; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Turnpenny PD; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, UK., Walsh JR; Department of Neurological Surgery, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA., Ray R; Departments of Pediatrics and Medical Genetics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA., Neilson A; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA., Kouranova E; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA., Cui X; Genome Engineering & Stem Cell Center, Department of Genetics, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA., Curiel DT; Department of Biomedical Engineering, McKelvey School of Engineering, Washington University in Saint Louis, St. Louis, MO 63130, USA; Division of Cancer Biology, Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA; Biologic Therapeutics Center, Department of Radiation Oncology, School of Medicine, Washington University in Saint Louis, St. Louis, MO 63110, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA., Stottmann RW; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH 43205, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Crosby AH; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK., Baple EL; Department of Clinical and Biomedical Science, University of Exeter Faculty of Health and Life Science, RILD building, Barrack Road, Exeter EX2 5DW, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree Hospital), Gladstone Road, Exeter EX1 2ED, UK. Electronic address: e.baple@exeter.ac.uk.

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Nov 03; Vol. 109 (11), pp. 2068-2079. Date of Electronic Publication: 2022 Oct 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Lissencephaly*/genetics , Nervous System Malformations*/genetics , Classical Lissencephalies and Subcortical Band Heterotopias*/genetics, Humans ; Animals ; Mice ; Alleles ; Tubulin/genetics ; Phenotype ; Mice, Knockout ; Microtubule-Associated Proteins/genetics

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دورية أكاديمية

Single-cell epigenomics reveals mechanisms of human cortical development.

المؤلفون: Ziffra RS; Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA.; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Kim CN; Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA., Ross JM; Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA., Wilfert A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Haeussler M; Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA., Casella AM; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Medical Scientist Training Program, University of Maryland School of Medicine, Baltimore, MD, USA., Przytycki PF; Gladstone Institutes, San Francisco, CA, USA., Keough KC; Institute for Computational Health Sciences, University of California, San Francisco, San Francisco, CA, USA.; University of California, San Francisco, San Francisco, CA, USA., Shin D; Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA., Bogdanoff D; Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA., Kreimer A; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA, USA.; Center for Computational Biology, University of California, Berkeley, Berkeley, CA, USA., Pollard KS; Gladstone Institutes, San Francisco, CA, USA.; Institute for Computational Health Sciences, University of California, San Francisco, San Francisco, CA, USA.; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA.; Quantitative Biology Institute, University of California, San Francisco, San Francisco, CA, USA.; Chan Zuckerberg Biohub, San Francisco, San Francisco, CA, USA., Ament SA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.; Department of Psychiatry, University of Maryland School of Medicine, Baltimore, MD, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Nowakowski TJ; Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA. tomasz.nowakowski@ucsf.edu.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA. tomasz.nowakowski@ucsf.edu.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA. tomasz.nowakowski@ucsf.edu.; Chan Zuckerberg Biohub, San Francisco, San Francisco, CA, USA. tomasz.nowakowski@ucsf.edu.

المصدر: Nature [Nature] 2021 Oct; Vol. 598 (7879), pp. 205-213. Date of Electronic Publication: 2021 Oct 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Epigenomics* , Neurogenesis* , Single-Cell Analysis*, Brain/*cytology, Atlases as Topic ; Brain/growth & development ; Brain/metabolism ; Chromatin/chemistry ; Chromatin/genetics ; Chromatin/metabolism ; Disease Susceptibility ; Enhancer Elements, Genetic ; Humans ; Neurons/cytology ; Neurons/metabolism ; Organoids/cytology ; Tretinoin/metabolism

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