Results 21 to 30 of about 1,544,422 (378)

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]

, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE, CAPUTO, VIVIANA, Castori, M, D'ANGELANTONIO, DANIELA, De Bernardo, C, Giannarelli, D, GRAMMATICO, Paola, LIPARI, MARTINA, Majore, S, PAIARDINI, ALESSANDRO, PIZZUTI, Antonio, Re, F, Zachara, E   +12 more
core   +1 more source

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

European Heart Journal, 2018
Aims Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition.
Thorsteinn Bjornsson, Rosa B. Thorolfsdottir, Gardar Sveinbjornsson, P. Sulem, G. Norddahl, A. Helgadóttir, S. Gretarsdottir, A. Magnusdottir, R. Danielsen, E. Sigurdsson, B. Adalsteinsdottir, Sverrir I. Gunnarsson, I. Jónsdóttir, D. Arnar, H. Helgason, T. Gudbjartsson, D. Gudbjartsson, U. Thorsteinsdóttir, H. Hólm, K. Stefánsson   +19 more
semanticscholar   +1 more source

Missense mutations in DYT-TOR1A dystonia [PDF]

Neurology Genetics, 2019
DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dystonia within a few years.
Zafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, Sandra P. Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Osmar Norberto de Souza, Inger Marie Skogseid, Mathias Toft   +8 more
openaire   +3 more sources

Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy [PDF]

, 2018
Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Azzollini, Jacopo, Bianchi, Simonetta, Bonanni, Bernardo, Bucalo, Agostino, Calistri, Daniele, Catucci, Irene, Coppa, Anna, Cortesi, Laura, Manoukian, Siranoush, Masala, Giovanna, Montagna, Marco, Ottini, Laura, Palli, Domenico, Peterlongo, Paolo, Radice, Paolo, Rizzolo, Piera, Russo, Antonio, Silvestri, Valentina, Spinelli, Alessandro Mauro, Tibiletti, Maria Grazia, Tommasi, Stefania, Valentini, Virginia, Varesco, Liliana, Viel, Alessandra, Zanna, Ines, Zelli, Veronica   +25 more
core   +3 more sources

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

Proceedings of the National Academy of Sciences of the United States of America, 2018
Significance We report a disease-causing mutation in the β-cell–enriched MAFA transcription factor. Strikingly, the missense p.Ser64Phe MAFA mutation was associated with either of two distinct phenotypes, multiple insulin-producing neuroendocrine tumors ...
D. Iacovazzo, S. Flanagan, E. Walker, Rosana Quezado, F. A. de Sousa Barros, R. Caswell, Matthew B. Johnson, M. Wakeling, M. Brändle, M. Guo, M. Dang, P. Gabrovska, B. Niederle, E. Christ, S. Jenni, B. Sipos, Maike Nieser, A. Frilling, K. Dhatariya, P. Chanson, W. D. de Herder, B. Konukiewitz, G. Klöppel, R. Stein, M. Korbonits, S. Ellard   +25 more
semanticscholar   +1 more source

Functional Consequences of PRODH Missense Mutations [PDF]

The American Journal of Human Genetics, 2005
PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and ...
Bender, Hans-Ulrich, Almashanu, Shlomo, Steel, Gary, Hu, Chien-An, Lin, Wei-Wen, Willis, Alecia, Pulver, Ann, Valle, David   +7 more
openaire   +2 more sources

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma

Journal of Translational Medicine, 2023
Background Although the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation subtypes on disease progression remained unclear.
Yiran Zhou, Jiabin Jin, Yuchen Ji, Jiaqiang Zhang, Ningzhen Fu, Mengmin Chen, Jun Wang, Kai Qin, Yu Jiang, Dongfeng Cheng, Xiaxing Deng, Baiyong Shen   +11 more
doaj   +1 more source

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

, 2017
Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K, Clayton-Smith, J, Dabir, T, DDD Study, Evers, JMG, Josifova, D, Joss, S, Kerr, B, Kraus, A, Laskowski, RA, McEntagart, M, Morton, J, O'Brien, S, Smith, A, Splitt, M, Suri, M, Thornton, JM, Wright, CF   +17 more
core   +2 more sources

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

Nature Neuroscience, 2017
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter.
Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, H. Stessman, H. Stessman, Kendra Hoekzema, M. Kvarnung, M. Shaw, K. Friend, K. Friend, J. Liebelt, Christopher Barnett, Christopher Barnett, E. Thompson, E. Thompson, E. Haan, E. Haan, Hui Guo, B. Anderlid, A. Nordgren, A. Lindstrand, G. Vandeweyer, A. Alberti, E. Avola, M. Vinci, S. Giusto, T. Pramparo, K. Pierce, S. Nalabolu, J. Michaelson, Z. Sedlacek, G. Santen, H. Peeters, H. Hakonarson, E. Courchesne, C. Romano, R. Kooy, R. Bernier, M. Nordenskjöld, J. Gécz, K. Xia, L. Zweifel, Evan E. Eichler, Evan E. Eichler   +45 more
semanticscholar   +1 more source

GJC2 Missense Mutations Cause Human Lymphedema [PDF]

The American Journal of Human Genetics, 2010
Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema.
Ferrell, Robert E., Baty, Catherine J., Kimak, Mark A., Karlsson, Jenny M., Lawrence, Elizabeth C., Franke-Snyder, Marlise, Meriney, Stephen D., Feingold, Eleanor, Finegold, David N.   +8 more
openaire   +2 more sources