Results 171 to 180 of about 122,027 (274)

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022
Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld   +20 more
wiley   +1 more source

Exome-wide association study reveals 7 functional variants associated with ex-vivo drug response in acute myeloid leukemia patients. [PDF]

BMC Med Genomics
Giri AK, Lin J, Kyriakidis K, Tripathi G, Almusa H.   +4 more
europepmc   +1 more source

Personalized genomic medicine: Lessons from the exome [PDF]

, 2011
Benjamin D. Solomon, Daniel Pineda‐Alvarez, Donald W. Hadley, NISC Comparative Sequencing Program, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Pedro Cruz, Alice Young, Robert W. Blakesley, Brendan C. Lanpher, Stephanie Mayfield Gibson, Murat Sincan, Settara C. Chandrasekharappa, James C. Mullikin   +14 more
openalex   +1 more source

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult‐Onset Still's Disease

Arthritis &Rheumatology, EarlyView.
Objective Adult‐onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large cohort with AOSD to investigate the underlying pathology and identify novel targets for potential treatment.
Joanne Topping, Leon Chang, Fatima Nadat, James A. Poulter, Alice Ibbotson, Samuel Lara‐Reyna, Christopher M. Watson, Clive Carter, Linda P. Pournara, Jan Zernicke, Rebecca L. Ross, Catherine Cargo, Paul A. Lyons, Kenneth G. C. Smith, Francesco Del Galdo, Jürgen Rech, Bruno Fautrel, Eugen Feist, Michael F. McDermott, Sinisa Savic, on behalf of the ImmunAID Consortium   +20 more
wiley   +1 more source

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

Human Mutation, Volume 43, Issue 12, Page 1898-1908, December 2022., 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy Abstract MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of
Arnaud Jacquier, Shams Ribault, Michel Mendes, Nicolas Lacoste, Valérie Risson, Julien Carras, Philippe Latour, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Laurent Schaeffer   +9 more
wiley   +1 more source

Comprehensive pharmacogenomics profiling of the Serbian population. [PDF]

Front Pharmacol
Jelovac M, Pavlovic D, Stankovic B, Kotur N, Ristivojevic B, Pavlovic S, Zukic B.   +6 more
europepmc   +1 more source

Exome Sequencing Links Gene Mutation in Angiopoietin-Like Protein 3 With Low-Density Lipoprotein Cholesterol [PDF]

, 2011
Nicole L. Glazer
openalex   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, EarlyView.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022
Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +6 more
wiley   +1 more source

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil. [PDF]

BMC Genomics
de Araújo WC, Falcão RM, Uchoa RAC, Garcia CA, da Silva AQB, Quirino KLM, Freire-Neto FP, Gurgel GP, Nascimento PRP, Ferreira LC, Duggal P, de Souza JES, Jeronimo SMB.   +12 more
europepmc   +1 more source