Results 11 to 20 of about 154,476 (163)

Packpred: Predicting the functional effect of missense mutations [PDF]

Frontiers in Molecular Biosciences, 2021
1. Abstract Predicting the functional consequences of single point mutations has relevance to protein function annotation and to clinical analysis/diagnosis. We developed and tested Packpred that makes use of a multi-body clique statistical potential in combination with a depth dependent amino acid substitution matrix ...
Kuan Pern Tan, Kuan Pern Tan, Tejashree Rajaram Kanitkar, Chee Keong Kwoh, Mallur Srivatsan Madhusudhan   +4 more
openaire   +5 more sources

Functional analysis reveals driver cooperativity and novel mechanisms in endometrial carcinogenesis

EMBO Molecular Medicine, 2023
High‐risk endometrial cancer has poor prognosis and is increasing in incidence. However, understanding of the molecular mechanisms which drive this disease is limited.
Matthew Brown, Alicia Leon, Katarzyna Kedzierska, Charlotte Moore, Hayley L Belnoue‐Davis, Susanne Flach, John P Lydon, Francesco J DeMayo, Annabelle Lewis, Tjalling Bosse, Ian Tomlinson, David N Church   +11 more
doaj   +1 more source

ThermoMutDB: a thermodynamic database for missense mutations [PDF]

Nucleic Acids Research, 2020
Abstract Proteins are intricate, dynamic structures, and small changes in their amino acid sequences can lead to large effects on their folding, stability and dynamics. To facilitate the further development and evaluation of methods to predict these changes, we have developed ThermoMutDB, a manually curated database containing >14,
Joicymara S. Xavier, Thanh-Binh Nguyen 0007, Malancha Karmarkar, Stephanie Portelli, Pâmela M. Rezende, João P. L. Velloso, David B. Ascher, Douglas E. V. Pires   +7 more
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Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Pifu-xingbing zhenliaoxue zazhi, 2023
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG   +3 more
doaj   +1 more source

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU, Pei-yuan ZHANG, Mei-fang LEI, Xin-ping WEI, Xiao-li YU, Dong LI, Jian-bo SHU, Chun-quan CAI, Yu-qin ZHANG   +8 more
doaj   +1 more source

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. [PDF]

PLoS Genetics, 2008
The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer ...
Nic Waddell, Anette Ten Haaf, Anna Marsh, Julie Johnson, Logan C Walker, kConfab Investigators, Milena Gongora, Melissa Brown, Piyush Grover, Mark Girolami, Sean Grimmond, Georgia Chenevix-Trench, Amanda B Spurdle   +12 more
doaj   +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
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Biochemical Analysis of a Missense Mutation in Aceruloplasminemia [PDF]

Journal of Biological Chemistry, 2002
Aceruloplasminemia is an inherited neurodegenerative disease characterized by parenchymal iron accumulation secondary to loss-of-function mutations in the ceruloplasmin gene. To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutant ceruloplasmin (P177R) occurring in an affected patient was examined.
Nathan E, Hellman, Satoshi, Kono, Hiroaki, Miyajima, Jonathan D, Gitlin   +3 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

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