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Human Mutation
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#1Yohan Bignon (University of Paris)H-Index: 1
#2Imene Sakhi (University of Paris)
Last. Olga Andrini (UCBL: Claude Bernard University Lyon 1)H-Index: 1
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Pathological missense mutations in CLCNKB gene give a wide spectrum of clinical phenotypes in Bartter syndrome type III patients. Molecular analysis of the mutated ClC-Kb channels can be helpful to classify the mutations according to their functional alteration. We investigated the functional consequences of nine mutations in the CLCNKB gene causing Bartter syndrome. We first established that all tested mutations lead to decreased ClC-Kb currents. Combining electrophysiological and biochemical m...
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#1Luiz Gustavo Dufner Almeida (USP: University of São Paulo)
#2Santoesha Nanhoe (EUR: Erasmus University Rotterdam)
Last. Mark Nellist (EUR: Erasmus University Rotterdam)H-Index: 30
view all 13 authors...
textabstractThe TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC, and the identification of a pathogenic TSC1 or TSC2 variant helps establish a diagnosis of TSC. However, it is not always clear whether TSC1 and TSC2 variants are inactivating. To determine whether TSC1 and TSC2 variants of uncertain clinical significance affec...
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#1June Y. Hu (WashU: Washington University in St. Louis)
#2Ping Yang (WashU: Washington University in St. Louis)H-Index: 4
Last. Jennifer A. Wambach (WashU: Washington University in St. Louis)H-Index: 12
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#1Elia Gil-Varea (Autonomous University of Barcelona)H-Index: 1
#2Nino Spataro (Autonomous University of Barcelona)H-Index: 5
Last. Oscar FernándezH-Index: 33
view all 21 authors...
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#1Zili Zhang (Guangzhou Medical University)H-Index: 5
#2Jianbo Wang (Guangzhou Medical University)H-Index: 37
Last. Liang Yuan (Guangzhou Medical University)H-Index: 2
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#1Gemma L. Carvill (NU: Northwestern University)H-Index: 21
#2Katherine L. Helbig (Children's Hospital of Philadelphia)H-Index: 15
Last. Joy Y. Sebe (UW: University of Washington)H-Index: 5
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#1Carmen LaiH-Index: 1
#2Anjali D ZimmerH-Index: 2
Last. Gilad MishneH-Index: 1
view all 9 authors...
Advances in genome sequencing have led to a tremendous increase in the discovery of novel missense variants, but evidence for determining clinical significance can be limited or conflicting. Here, we present LEAP, a machine learning model that utilizes a variety of feature categories to classify variants, and achieves high performance in multiple genes and different health conditions. Feature categories include functional predictions, splice predictions, population frequencies, conservation scor...
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#1Rami A. Ballout (NIH: National Institutes of Health)
Last. Bo Hong (ARUP Laboratories)H-Index: 5
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#1Guillermo del Angel (Alexion Pharmaceuticals)H-Index: 1
#2John Reynders (Alexion Pharmaceuticals)H-Index: 1
Last. Etienne MornetH-Index: 23
view all 5 authors...
Hypophosphatasia (HPP) is a rare metabolic disorder characterized by low tissue-nonspecific alkaline phosphatase (TNSALP) typically caused by ALPL gene mutations. HPP is heterogeneous, with clinical presentation correlating with residual TNSALP activity and/or dominant-negative effects (DNE). We measured residual activity and DNE for 155 ALPL variants by transient transfection and TNSALP enzymatic activity measurement. Ninety variants showed low residual activity and 24 showed DNE. These results...
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