Results 21 to 30 of about 1,540,335 (330)

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

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption [PDF]

, 2009
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system.
Cole, Trevor, Kurian, Manju A., Maher, Eamonn R., Meyer, Esther, Pasha, Shanaz, Trembath, Richard C.   +5 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

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

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

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

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

Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis [PDF]

, 2016
Dedifferentiated chondrosarcoma (DDCS) is a rare disease with a dismal prognosis. DDCS consists of two morphologically distinct components: the cartilaginous and noncartilaginous components.
Cao, Dengfeng, Chen, Rongrong, Chen, Xi, DeLaney, Thomas F, Gao, Lu, Gao, Xiaohuan, Gong, Xinqi, Guo, Xiaopeng, Hong, Xiafei, Ni, Jianjiao, Tian, Pangzehuan, Wang, Renzhi, Xing, Bing, Yao, Yong   +13 more
core   +2 more sources

FBXW7 missense mutation: a novel negative prognostic factor in metastatic colorectal adenocarcinoma

OncoTarget, 2017
Background FBXW7 functions as a ubiquitin ligase tagging multiple dominant oncogenic proteins and commonly mutates in colorectal cancer. Data suggest missense mutations lead to greater loss of FBXW7 function than other gene aberrations do.
K. Korphaisarn, V. Morris, M. Overman, D. Fogelman, B. Kee, Raghav Kanwal Pratap Singh, Shanequa Manuel, I. Shureiqi, R. Wolff, C. Eng, D. Menter, S. Hamilton, S. Kopetz, A. Dasari   +13 more
semanticscholar   +1 more source

Investigation of anticoagulant rodenticide resistance induced by Vkorc1 mutations in rodents in Lebanon

Scientific Reports, 2022
Anticoagulant rodenticides (AR) remain the most effective chemical substances used to control rodents in order to limit their agricultural and public health damage in both rural and urban environments.
Antoine Rached, Georges Abi Rizk, Ali Barka Mahamat, Graziella El Khoury, Jeanne El Hage, Elena Harran, Virginie Lattard   +6 more
doaj   +1 more source