المؤلفون: Morales, RA, Rabahi, S, Diaz, OE, Salloum, Y, Kern, BC, Westling, M, Luo, XX, Parigi, SM, Monasterio, G, Das, S, Hernandez, PP, Villablanca, EJ

المصدر: Mucosal immunology. 15(5):940-951

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150171512

المؤلفون: Kaya, B, Donas, C, Wuggenig, P, Diaz, OE, Morales, RA, Melhem, H, Hernandez, PP, Kaymak, T, Das, S, Hruz, P, Franc, Y, Geier, F, Ayata, CK, Villablanca, EJ, Niess, JH

المصدر: Cell reports. 32(5):107979

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144421262

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المؤلفون: Copeland I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wonkam-Tingang E; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Gupta-Malhotra M; Department of Cardiology, Baylor College of Medicine, San Antonio, Texas, USA., Hashmi SS; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Han Y; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Jajoo A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Hall NJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA., Lie N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA., Liu D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Xu J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Haldipur A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Desire Z; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics., Li Q; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics; and.; Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA., Zaske AM; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Milewicz DM; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Shete S; The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA., Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.

المصدر: JCI insight [JCI Insight] 2024 May 08; Vol. 9 (9). Date of Electronic Publication: 2024 May 08.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Cytoskeletal Proteins*/genetics , Essential Hypertension*/genetics , Exome Sequencing* , Nerve Tissue Proteins*/genetics, Adolescent ; Child ; Female ; Humans ; Male ; Age of Onset ; Exome/genetics ; Genetic Predisposition to Disease ; Mutation, Missense/genetics ; Nuclear Proteins/genetics ; Pedigree ; rhoA GTP-Binding Protein/genetics ; United States/epidemiology ; Infant, Newborn ; Infant ; Child, Preschool ; Young Adult

المؤلفون: Li S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhao S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sinson JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bajic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Advanced Technology Cores, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Neeley MB; Graduate Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, USA., Pena M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Clark GD; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; Cain Pediatric Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Emrick L; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Sheppard J; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA., Nguyen MTT; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Khoramnia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Nagamani SC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Liu Z; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Graduate Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA. Electronic address: pengfeil@bcm.edu.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 May 02; Vol. 111 (5), pp. 841-862. Date of Electronic Publication: 2024 Apr 08.

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: Cell Transdifferentiation*/genetics , Fibroblasts*/metabolism , Fibroblasts*/cytology , Sequence Analysis, RNA*/methods , Neurons*/metabolism , Neurons*/cytology, Humans ; Transcriptome ; Reproducibility of Results ; Nervous System Diseases/genetics ; Nervous System Diseases/diagnosis ; RNA-Seq/methods ; Female ; Male

المؤلفون: Walters ME; Division of Dermatology, Harbor-UCLA Medical Center, Torrance, California, USA., Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana, USA., Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Mar; Vol. 185 (3), pp. 916-922. Date of Electronic Publication: 2020 Dec 27.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Loss of Function Mutation* , Mutation, Missense*, Abnormalities, Multiple/*genetics , Acrocephalosyndactylia/*genetics , DNA-Binding Proteins/*genetics , Nuclear Proteins/*genetics , Osteogenesis/*genetics , Skull/*abnormalities , Transcription Factors/*genetics , Twist-Related Protein 1/*genetics, Adult ; Cerebellar Vermis/abnormalities ; DNA-Binding Proteins/deficiency ; Female ; Foot Deformities, Congenital/genetics ; Genes, Dominant ; Hand Deformities, Congenital/genetics ; Heterozygote ; Humans ; Imaging, Three-Dimensional ; Infant, Newborn ; Male ; Nuclear Proteins/deficiency ; Pedigree ; Pregnancy ; Skull/diagnostic imaging ; Skull/embryology ; Syndactyly/genetics ; Thumb/abnormalities ; Tomography, X-Ray Computed ; Transcription Factors/deficiency ; Twist-Related Protein 1/deficiency ; Ultrasonography, Prenatal ; Exome Sequencing

المؤلفون: Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Current affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Paine IS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Current affiliation: Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland., Valdes SO; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Cannon B; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jhangiani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Boricha F; Department of Pediatrics, the University of Texas Health Science Center at Houston, Houston, Texas, USA., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wehrens XHT; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.; Cardiovascular Research Institute, Baylor College of Medicine, Houston, Texas, USA., Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Kim JJ; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Miyake CY; Department of Pediatrics, Division of Cardiology, Texas Children's Hospital, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1387-1399. Date of Electronic Publication: 2020 Mar 31.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, AMP-Activated Protein Kinases/*genetics , Atrial Fibrillation/*genetics , Wolff-Parkinson-White Syndrome/*genetics, Adolescent ; Adult ; Ankyrins/genetics ; Atrial Fibrillation/pathology ; Carrier Proteins/genetics ; Child ; Cohort Studies ; Cytoskeletal Proteins/genetics ; DNA-Binding Proteins/genetics ; Female ; Genetic Association Studies ; Heart Atria/pathology ; Homeodomain Proteins/genetics ; Humans ; LIM Domain Proteins/genetics ; Male ; Mutation/genetics ; Transcription Factors/genetics ; Exome Sequencing ; Wolff-Parkinson-White Syndrome/pathology ; Young Adult ; Homeobox Protein PITX2

المؤلفون: Coronado M; Departamento de Ciencias Biologicas, Facultad de Ciencias de la Vida, Universidad Andres Bello, Santiago, Chile., Solis CJ; Millennium Nucleus in the Biology of Intestinal Microbiota, Santiago, Chile.; Escuela de Tecnología Médica, Facultad de Ciencias de la Salud, Universidad San Sebastian, Santiago, Chile., Hernandez PP; Macrophages and Development of Immunity, Institute Pasteur, Paris, France., Feijóo CG; Departamento de Ciencias Biologicas, Facultad de Ciencias de la Vida, Universidad Andres Bello, Santiago, Chile.; Millennium Nucleus in the Biology of Intestinal Microbiota, Santiago, Chile.

المصدر: Frontiers in immunology [Front Immunol] 2019 Apr 02; Vol. 10, pp. 610. Date of Electronic Publication: 2019 Apr 02 (Print Publication: 2019).

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

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Animal Feed/*adverse effects , Inflammatory Bowel Diseases/*immunology , Intestinal Mucosa/*immunology , Glycine max/*adverse effects , Th17 Cells/*immunology , Zebrafish/*immunology, Animals ; Homeodomain Proteins/genetics ; Homeodomain Proteins/immunology ; Inflammatory Bowel Diseases/chemically induced ; Inflammatory Bowel Diseases/genetics ; Inflammatory Bowel Diseases/pathology ; Intestinal Mucosa/pathology ; Th17 Cells/pathology ; Zebrafish/genetics

المؤلفون: Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA., Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Willer JR; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Lugtenberg D; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Zhu W; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Schoots J; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., de Munnik SA; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Roepman R; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Pearring JN; Department of Ophthalmology, Duke University Medical Center, Durham, NC 27701, USA., Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Vissers LE; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; 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., Gibbs RA; 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., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, 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, Texas Children's Hospital, Houston, TX 77030, USA., Bongers EM; Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Electronic address: ernie.bongers@radboudumc.nl., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA. Electronic address: yapingy@bcm.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2015 Dec 03; Vol. 97 (6), pp. 904-13.

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

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

مواضيع طبية MeSH: Mutation*, Congenital Microtia/*genetics , Dwarfism/*genetics , Geminin/*genetics , Growth Disorders/*genetics , Micrognathism/*genetics , Patella/*abnormalities, Adolescent ; Amino Acid Sequence ; Base Sequence ; Cell Cycle/genetics ; Child, Preschool ; Congenital Microtia/metabolism ; Dwarfism/metabolism ; Dwarfism/pathology ; Exons ; Female ; Geminin/metabolism ; Gene Expression ; Genes, Dominant ; Growth Disorders/metabolism ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Inheritance Patterns ; Male ; Micrognathism/metabolism ; Molecular Sequence Data ; Patella/metabolism ; Pedigree ; Protein Stability ; Proteolysis ; RNA Splicing ; Sequence Alignment

SCR Disease Name: Meier-Gorlin syndrome

المؤلفون: Klose CS; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Department of Internal Medicine IV, University of Freiburg Medical Center, 79106 Freiburg, Germany., Blatz K; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Department of Internal Medicine IV, University of Freiburg Medical Center, 79106 Freiburg, Germany., d'Hargues Y; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Department of Internal Medicine IV, University of Freiburg Medical Center, 79106 Freiburg, Germany., Hernandez PP; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Institute of Medical Microbiology and Hygiene, University of Mainz Medical Center, 55131 Mainz, Germany., Kofoed-Nielsen M; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Institute of Medical Microbiology and Hygiene, University of Mainz Medical Center, 55131 Mainz, Germany; International Max Planck Research School for Molecular and Cellular Biology, 79108 Freiburg, Germany., Ripka JF; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Department of Internal Medicine IV, University of Freiburg Medical Center, 79106 Freiburg, Germany., Ebert K; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Department of Internal Medicine IV, University of Freiburg Medical Center, 79106 Freiburg, Germany; Faculty of Biology, 79104 Freiburg, Germany., Arnold SJ; Department of Internal Medicine IV, University of Freiburg Medical Center, 79106 Freiburg, Germany; BIOSS Center of Biological Signalling Studies, 79104 Freiburg, Germany., Diefenbach A; Institute of Medical Microbiology and Hygiene, University of Mainz Medical Center, 55131 Mainz, Germany., Palmer E; Laboratory of Transplantation Immunology, Departments of Biomedicine and Nephrology, University Hospital Basel, 4031 Basel, Switzerland., Tanriver Y; Institute of Medical Microbiology and Hygiene, University of Freiburg Medical Center, 79104 Freiburg, Germany; Department of Internal Medicine IV, University of Freiburg Medical Center, 79106 Freiburg, Germany. Electronic address: yakup.tanriver@uniklinik-freiburg.de.

المصدر: Immunity [Immunity] 2014 Aug 21; Vol. 41 (2), pp. 230-43.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 9432918 Publication Model: Print Cited Medium: Internet ISSN: 1097-4180 (Electronic) Linking ISSN: 10747613 NLM ISO Abbreviation: Immunity Subsets: MEDLINE

مواضيع طبية MeSH: CD8 Antigens/*biosynthesis , Interleukin-15/*genetics , Receptors, Antigen, T-Cell, alpha-beta/*genetics , Receptors, Antigen, T-Cell, gamma-delta/*genetics , T-Box Domain Proteins/*genetics, Animals ; CD4-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/immunology ; Cell Differentiation/immunology ; Colitis/chemically induced ; Colitis/immunology ; Epithelial Cells/immunology ; Interleukin-15/immunology ; Intestinal Mucosa/cytology ; Intestinal Mucosa/immunology ; Intestines/cytology ; Intestines/immunology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Receptors, Interleukin-15/immunology ; Signal Transduction/immunology ; T-Box Domain Proteins/biosynthesis