المؤلفون: Ganesh VS; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Riquin K; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Chatron N; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France., Lamar KM; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Aziz MC; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Monin P; Service de génétique, Hospices Civils de Lyon, Lyon, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goodrich JK; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garimella KV; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., England E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Yoon E; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Weisburd B; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Aguet F; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sarusi Y; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Sanlaville D; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France., Kayani S; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Broadbent B; Coalition to Cure CHD2, USA., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., Pengam A; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., MacArthur DG; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., Ulitsky I; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Carvill GL; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 07. Date of Electronic Publication: 2024 Feb 07.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Swahn H; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Sabith Ebron J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Lamar KM; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Yin S; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Kerschner JL; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., NandyMazumdar M; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Coppola C; Department of Biological Sciences, University of Alabama in Huntsville, Huntsville, AL, USA., Mendenhall EM; Department of Biological Sciences, University of Alabama in Huntsville, Huntsville, AL, USA., Leir SH; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA., Harris A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.

المصدر: Journal of cellular and molecular medicine [J Cell Mol Med] 2019 Nov; Vol. 23 (11), pp. 7726-7740. Date of Electronic Publication: 2019 Sep 26.

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: England NLM ID: 101083777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1582-4934 (Electronic) Linking ISSN: 15821838 NLM ISO Abbreviation: J Cell Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation* , Genes, Modifier*, Chromosomes, Human, Pair 11/*genetics , Cystic Fibrosis/*genetics , DNA-Binding Proteins/*genetics , Transcription Factors/*genetics, Chromatin/metabolism ; DNA-Binding Proteins/metabolism ; Genetic Loci ; Humans ; Introns/genetics ; Promoter Regions, Genetic ; Sequence Deletion ; Transcription Factors/metabolism

المؤلفون: Stolzenburg LR; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Yang R; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Kerschner JL; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44016, USA., Fossum S; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Xu M; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Hoffmann A; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Lamar KM; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44016, USA., Ghosh S; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Wachtel S; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Leir SH; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44016, USA., Harris A; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44016, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2017 Sep 06; Vol. 45 (15), pp. 8773-8784.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation*, Chromosomes, Human, Pair 11/*genetics , Cystic Fibrosis/*genetics , Cystic Fibrosis/*pathology , Transcription Factors/*physiology, Caco-2 Cells ; Cells, Cultured ; Chromatin/metabolism ; Enhancer Elements, Genetic ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; K562 Cells ; Polymorphism, Single Nucleotide ; Severity of Illness Index ; Transcription Factors/genetics

المؤلفون: Lamar KM; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago Illinois, United States of America., Bogdanovich S; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago Illinois, United States of America., Gardner BB; Molecular Pathogenesis and Molecular Medicine, The University of Chicago, Chicago, Illinois, United States of America., Gao QQ; Committee on Development, Regeneration, and Stem Cell Biology, The University of Chicago, Chicago, Illinois, United States of America., Miller T; Department of Medicine, The University of Chicago, Chicago, Illinois, United States of America., Earley JU; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago Illinois, United States of America., Hadhazy M; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago Illinois, United States of America., Vo AH; Committee on Development, Regeneration, and Stem Cell Biology, The University of Chicago, Chicago, Illinois, United States of America., Wren L; Department of Medicine, The University of Chicago, Chicago, Illinois, United States of America., Molkentin JD; Cincinnati Children's Hospital, Howard Hughes Medicine Institutes, Cincinnati, Ohio, United States of America., McNally EM; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago Illinois, United States of America.

المصدر: PLoS genetics [PLoS Genet] 2016 May 05; Vol. 12 (5), pp. e1006019. Date of Electronic Publication: 2016 May 05 (Print Publication: 2016).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Bone Morphogenetic Proteins/*genetics , Growth Differentiation Factors/*genetics , Latent TGF-beta Binding Proteins/*biosynthesis , Muscle, Skeletal/*metabolism , Muscular Dystrophy, Duchenne/*genetics , Myostatin/*genetics, Animals ; Bone Morphogenetic Proteins/metabolism ; Disease Models, Animal ; Gene Expression Regulation/genetics ; Growth Differentiation Factors/metabolism ; Humans ; Latent TGF-beta Binding Proteins/genetics ; Mice ; Mice, Inbred mdx ; Mice, Transgenic ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/pathology ; Myostatin/metabolism ; Naphthols ; Transforming Growth Factor beta/genetics ; Transforming Growth Factor beta/metabolism ; Triazines

المؤلفون: Lamar KM; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America., Miller T; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America., Dellefave-Castillo L; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America., McNally EM; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.

المصدر: PloS one [PLoS One] 2016 Feb 26; Vol. 11 (2), pp. e0150358. Date of Electronic Publication: 2016 Feb 26 (Print Publication: 2016).

نوع المنشور: Comparative Study; Journal Article; Research Support, N.I.H., Extramural

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: Cardiomyopathy, Dilated/*genetics , Ethnicity/*genetics , Haplotypes/*genetics , Latent TGF-beta Binding Proteins/*genetics , Transforming Growth Factor beta1/*metabolism, Adult ; Black or African American/genetics ; Alleles ; Amino Acid Sequence ; Cardiomyopathy, Dilated/metabolism ; Chicago/epidemiology ; Europe/ethnology ; Female ; Fetal Blood ; Gene Frequency ; Genotype ; HEK293 Cells ; Humans ; Infant, Newborn ; Latent TGF-beta Binding Proteins/chemistry ; Latent TGF-beta Binding Proteins/metabolism ; Male ; Middle Aged ; Molecular Sequence Data ; Polymorphism, Single Nucleotide ; Protein Binding ; Protein Interaction Mapping ; Recombinant Fusion Proteins/metabolism ; Young Adult

المؤلفون: Lamar KM; Department of Human Genetics, Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL, USA., McNally EM; Department of Human Genetics, Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL, USA.

المصدر: Journal of neuromuscular diseases [J Neuromuscul Dis] 2014; Vol. 1 (1), pp. 3-13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Print ISSN: 2214-3599 (Print) NLM ISO Abbreviation: J Neuromuscul Dis

المؤلفون: Du X; Department of Neurology, University of Chicago, Chicago, IL 60637, USA., Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM

المصدر: Cell [Cell] 2013 Jul 03; Vol. 154 (1), pp. 118-33.

نوع المنشور: 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: 0413066 Publication Model: Print Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: Calcium Channels/*genetics , Spinocerebellar Ataxias/*genetics , Transcription Factors/*genetics, Animals ; Calcium Channels/metabolism ; Cell Death ; Cell Line, Tumor ; Cerebellum/embryology ; Cerebellum/physiopathology ; Gene Expression Regulation ; Humans ; Mice ; Neurites/metabolism ; Peptides/genetics ; Purkinje Cells/metabolism ; Rats ; Spinocerebellar Ataxias/metabolism ; Spinocerebellar Ataxias/physiopathology ; Transcription Factors/metabolism ; Transcription, Genetic

المؤلفون: Flanigan KM; Center for Gene Therapy, Nationwide Children' Hospital, Columbus, OH; Department of Pediatrics, Ohio State University, Columbus, OH; Department of Neurology, Ohio State University, Columbus, OH., Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB

مؤلفون مشاركون: United Dystrophinopathy Project

المصدر: Annals of neurology [Ann Neurol] 2013 Apr; Vol. 73 (4), pp. 481-8. Date of Electronic Publication: 2013 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mobility Limitation*, Genetic Predisposition to Disease/*genetics , Latent TGF-beta Binding Proteins/*genetics , Muscular Dystrophy, Duchenne/*genetics , Muscular Dystrophy, Duchenne/*physiopathology , Polymorphism, Single Nucleotide/*genetics, Extracellular Matrix Proteins/metabolism ; Female ; Fibroblasts/drug effects ; Fibroblasts/metabolism ; Genetic Testing ; Genotype ; Glucocorticoids/pharmacology ; Humans ; Male ; Muscular Dystrophy, Duchenne/drug therapy ; Smad Proteins/metabolism

المؤلفون: De Carvalho Aguiar P; Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil. patriciamc@einstein.br, Fuchs T, Borges V, Lamar KM, Silva SM, Ferraz HB, Ozelius L

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2010 Dec 15; Vol. 25 (16), pp. 2854-7.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Apoptosis Regulatory Proteins/*genetics , DNA-Binding Proteins/*genetics , Dystonic Disorders/*genetics , Molecular Chaperones/*genetics , Nuclear Proteins/*genetics, Adolescent ; Adult ; Brazil ; Child ; Female ; Genetic Testing ; Humans ; Male ; Middle Aged ; Pedigree ; Sequence Deletion