المؤلفون: Khandwala CB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Sarkar P; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Schmidt HB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Ma M; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Kinnebrew M; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Pusapati GV; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Patel BB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Tillo D; Center for Cancer Research Genomics Core, National Cancer Institute, National Institutes of Health, NIH, Building 37, RM 2056B, Bethesda, MD, 20892, USA., Lebensohn AM; Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, NIH, Building 37, RM 2056B, Bethesda, MD, 20892, USA., Rohatgi R; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Sep 24. Date of Electronic Publication: 2023 Sep 24.

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

المؤلفون: Kong JH; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Young CB; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Pusapati GV; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Espinoza FH; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Patel CB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Beckert F; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Ho S; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Patel BB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Gabriel GC; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Aravind L; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA., Bazan JF; H Bioconsulting, Stillwater, MN 50082, USA., Gunn TM; McLaughlin Research Institute, Great Falls, MT 59405, USA., Lo CW; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Rohatgi R; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

المصدر: Development (Cambridge, England) [Development] 2021 Oct 01; Vol. 148 (19). Date of Electronic Publication: 2021 Oct 04.

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

بيانات الدورية: Publisher: Company Of Biologists Limited Country of Publication: England NLM ID: 8701744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9129 (Electronic) Linking ISSN: 09501991 NLM ISO Abbreviation: Development Subsets: MEDLINE

مواضيع طبية MeSH: Gene-Environment Interaction* , Penetrance*, Abnormalities, Drug-Induced/*genetics , Hedgehog Proteins/*metabolism, Animals ; Cells, Cultured ; HEK293 Cells ; Humans ; Mice ; Mice, Inbred C57BL ; NIH 3T3 Cells ; Signal Transduction ; Smoothened Receptor/genetics ; Smoothened Receptor/metabolism

المؤلفون: Zhao Z, Lee RTH, Pusapati GV, Iyu A, Rohatgi R, Ingham PW

المصدر: EMBO reports [EMBO Rep] 2021 May 05; Vol. 22 (5), pp. e52895. Date of Electronic Publication: 2021 Apr 19.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Kong JH; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Young CB; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Pusapati GV; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Patel CB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Ho S; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Krishnan A; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA., Lin JI; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Devine W; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA., Moreau de Bellaing A; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA; Department of Pediatric Cardiology, Necker-Sick Children Hospital and The University of Paris Descartes, Paris 75015, France., Athni TS; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Aravind L; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA., Gunn TM; McLaughlin Research Institute, Great Falls, MT 59405, USA. Electronic address: tmg@mclaughlinresearch.org., Lo CW; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA. Electronic address: cel36@pitt.edu., Rohatgi R; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: rrohatgi@stanford.edu.

المصدر: Developmental cell [Dev Cell] 2020 Nov 23; Vol. 55 (4), pp. 432-449.e12. Date of Electronic Publication: 2020 Sep 22.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1551 (Electronic) Linking ISSN: 15345807 NLM ISO Abbreviation: Dev Cell Subsets: MEDLINE

مواضيع طبية MeSH: Signal Transduction* , Ubiquitination*, Heart/*embryology , Hedgehog Proteins/*metabolism, Alleles ; Animals ; Embryo, Mammalian/metabolism ; Epistasis, Genetic ; Gene Dosage ; Membrane Proteins/metabolism ; Mice ; Mutation/genetics ; NIH 3T3 Cells ; Phenotype ; Protein Binding ; Smoothened Receptor/metabolism ; Ubiquitin-Protein Ligases/metabolism

المؤلفون: Bosakova M; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic.; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Abraham SP; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Nita A; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Hruba E; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Buchtova M; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Taylor SP; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Duran I; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Martin J; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Svozilova K; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic., Barta T; Department of Histology and Embryology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Varecha M; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Balek L; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Kohoutek J; Veterinary Research Institute, Brno, Czech Republic., Radaszkiewicz T; Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic., Pusapati GV; Department of Biochemistry, Stanford University, Palo Alto, CA, USA.; Department of Medicine, Stanford University, Palo Alto, CA, USA., Bryja V; Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic., Rush ET; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri, Kansas City, MO, USA., Thiffault I; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri, Kansas City, MO, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Rohatgi R; Department of Biochemistry, Stanford University, Palo Alto, CA, USA.; Department of Medicine, Stanford University, Palo Alto, CA, USA., Cohn DH; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Molecular Cell and Developmental Biology, University of California at Los Angeles, Los Angeles, CA, USA., Krakow D; Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Krejci P; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic.; Institute of Animal Physiology and Genetics of the CAS, Brno, Czech Republic.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics

المصدر: EMBO molecular medicine [EMBO Mol Med] 2020 Nov 06; Vol. 12 (11), pp. e11739. Date of Electronic Publication: 2020 Oct 14.

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

بيانات الدورية: Publisher: EMBO Press Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome* , Hedgehog Proteins*/genetics, G-Protein-Coupled Receptor Kinase 2/*genetics, Humans ; Mutation ; Wnt Signaling Pathway

SCR Disease Name: Jeune syndrome

المؤلفون: Dubey R; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, United States., van Kerkhof P; Department of Cell Biology and Oncode Institute, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht, Netherlands., Jordens I; Department of Cell Biology and Oncode Institute, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht, Netherlands., Malinauskas T; Division of Structural Biology, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Pusapati GV; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, United States., McKenna JK; Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, United States., Li D; Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, United States., Carette JE; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, United States., Ho M; Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, United States., Siebold C; Division of Structural Biology, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Maurice M; Department of Cell Biology and Oncode Institute, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht, Netherlands., Lebensohn AM; Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, United States., Rohatgi R; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, United States.

المصدر: ELife [Elife] 2020 May 20; Vol. 9. Date of Electronic Publication: 2020 May 20.

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

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Wnt Signaling Pathway*, Heparan Sulfate Proteoglycans/*metabolism , Intercellular Signaling Peptides and Proteins/*metabolism , Receptors, G-Protein-Coupled/*metabolism, Cells, Cultured ; Developmental Biology ; Heparan Sulfate Proteoglycans/genetics ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Ligands ; Organoids ; Receptors, G-Protein-Coupled/genetics ; Thrombospondins

المؤلفون: Kinnebrew M; Department of Biochemistry, Stanford University School of Medicine, Stanford, United States., Iverson EJ; Department of Biochemistry, Stanford University School of Medicine, Stanford, United States., Patel BB; Department of Biochemistry, Stanford University School of Medicine, Stanford, United States., Pusapati GV; Department of Biochemistry, Stanford University School of Medicine, Stanford, United States., Kong JH; Department of Biochemistry, Stanford University School of Medicine, Stanford, United States., Johnson KA; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, United States., Luchetti G; Department of Biochemistry, Stanford University School of Medicine, Stanford, United States., Eckert KM; Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, United States., McDonald JG; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, United States.; Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, United States., Covey DF; Taylor Family Institute for Innovative Psychiatric Research, Washington University School of Medicine, St. Louis, United States.; Department of Developmental Biology, Washington University School of Medicine, St. Louis, United States., Siebold C; Division of Structural Biology, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Radhakrishnan A; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, United States., Rohatgi R; Department of Biochemistry, Stanford University School of Medicine, Stanford, United States.; Department of Medicine, Stanford University School of Medicine, Stanford, United States.

المصدر: ELife [Elife] 2019 Oct 30; Vol. 8. Date of Electronic Publication: 2019 Oct 30.

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

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Signal Transduction*, Cholesterol/*metabolism , Cilia/*metabolism , Hedgehog Proteins/*metabolism, Animals ; Clustered Regularly Interspaced Short Palindromic Repeats ; Humans

المؤلفون: Phua SC, Chiba S, Suzuki M, Su E, Roberson EC, Pusapati GV, Schurmans S, Setou M, Rohatgi R, Reiter JF, Ikegami K, Inoue T

المصدر: Cell [Cell] 2019 Jun 27; Vol. 178 (1), pp. 261.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Patel BB; Department of Biochemistry, Stanford University School of Medicine, Stanford, California, United States of America.; Department of Medicine, Stanford University School of Medicine, Stanford, California, United States of America., Lebensohn AM; Department of Biochemistry, Stanford University School of Medicine, Stanford, California, United States of America.; Department of Medicine, Stanford University School of Medicine, Stanford, California, United States of America., Pusapati GV; Department of Biochemistry, Stanford University School of Medicine, Stanford, California, United States of America., Carette JE; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, California, United States of America., Salzman J; Department of Biochemistry, Stanford University School of Medicine, Stanford, California, United States of America.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, United States of America., Rohatgi R; Department of Biochemistry, Stanford University School of Medicine, Stanford, California, United States of America.; Department of Medicine, Stanford University School of Medicine, Stanford, California, United States of America.

المصدر: PloS one [PLoS One] 2019 Jan 29; Vol. 14 (1), pp. e0198463. Date of Electronic Publication: 2019 Jan 29 (Print Publication: 2019).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Introns* , Models, Genetic* , Regulatory Sequences, Nucleic Acid* , Sequence Analysis, DNA*, Animals ; Computational Biology ; Genomics ; Haploidy ; Humans ; Mutagenesis, Insertional ; Retroviridae/genetics

المؤلفون: Hong SR; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, 30013, Taiwan., Wang CL; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, 30013, Taiwan., Huang YS; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, 30013, Taiwan., Chang YC; Department of Life Science, National Tsing Hua University, Hsinchu, 30013, Taiwan., Chang YC; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, 30013, Taiwan., Pusapati GV; Departments of Medicine and Biochemistry, Stanford University School of Medicine, Stanford, 94305, CA, USA., Lin CY; Department of Medical Science, National Tsing Hua University, Hsinchu, 30013, Taiwan., Hsu N; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, 30013, Taiwan., Cheng HC; Department of Medical Science, National Tsing Hua University, Hsinchu, 30013, Taiwan., Chiang YC; Interdisciplinary Program of Science, National Tsing Hua University, Hsinchu, 30013, Taiwan., Huang WE; Department of Life Science, National Tsing Hua University, Hsinchu, 30013, Taiwan., Shaner NC; Department of Photobiology and Bioimaging, The Scintillon Institute, San Diego, 92121, CA, USA., Rohatgi R; Departments of Medicine and Biochemistry, Stanford University School of Medicine, Stanford, 94305, CA, USA., Inoue T; Department of Cell Biology, Center for Cell Dynamics, School of Medicine, Johns Hopkins University, Baltimore, 21205, MD, USA. jctinoue@jhmi.edu., Lin YC; Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, 30013, Taiwan. ycl@life.nthu.edu.tw.; Department of Medical Science, National Tsing Hua University, Hsinchu, 30013, Taiwan. ycl@life.nthu.edu.tw.

المصدر: Nature communications [Nat Commun] 2018 Apr 30; Vol. 9 (1), pp. 1732. Date of Electronic Publication: 2018 Apr 30.

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

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Protein Processing, Post-Translational*, Cilia/*metabolism , Hedgehog Proteins/*metabolism , Microtubule-Associated Proteins/*metabolism , Tubulin/*metabolism, Acetylation ; Animals ; Cilia/ultrastructure ; Genes, Reporter ; Glutamic Acid/metabolism ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Hedgehog Proteins/genetics ; Kinesins ; Mice ; Microtubule-Associated Proteins/genetics ; NIH 3T3 Cells ; Optical Imaging ; Signal Transduction ; Tubulin/genetics ; Tyrosine/metabolism