Results 1 to 10 of about 1,702,970 (343)

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

Frontiers in Molecular Biosciences, 2021
1.AbstractPredicting 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 (FADHM) and positional Shannon ...
Kuan Pern Tan, Kuan Pern Tan, Tejashree Rajaram Kanitkar, Chee Keong Kwoh, Mallur Srivatsan Madhusudhan   +4 more
openaire   +5 more sources

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

A Newly Identified Missense Mutation in FARS2 Causes Autosomal‐Recessive Spastic Paraplegia

Human Mutation, 2016
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by spasticity of the lower limbs due to pyramidal tract dysfunction.
Ying Yang, Wei Liu, Z. Fang, Juan Shi, Fengyu Che, Chunxia He, Libo Yao, Enduo Wang, Yuan-ming Wu   +8 more
semanticscholar   +1 more source

AHDC1 missense mutations in Xia-Gibbs syndrome

Human Genetics and Genomics Advances, 2021
Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. More than 270 individuals have been diagnosed with XGS worldwide.
Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura Cross, Emilia K. Bijlsma, Claudia A.L. Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O’Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, Richard A. Gibbs   +22 more
openaire   +4 more sources

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

bioRxiv, 2016
BackgroundHaplotypes with reduced or missing homozygosity may harbor deleterious alleles that compromise juvenile survival. A scan for homozygous haplotype deficiency revealed a short segment on bovine chromosome 19 (Braunvieh haplotype 2, BH2) that was ...
H. Schwarzenbacher, J. Burgstaller, F. Seefried, C. Wurmser, M. Hilbe, Simone Jung, C. Fuerst, N. Dinhopl, H. Weissenböck, B. Fuerst-Waltl, M. Dolezal, Reinhard Winkler, Oskar Grueter, U. Bleul, T. Wittek, R. Fries, H. Pausch   +16 more
semanticscholar   +1 more source

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum [PDF]

, 2005
In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease ...
Cruts, Marc, Dermaut, Bart, Kumar-Singh, Samir, Rademakers, Rosa, Theuns, Jessie, Van Broeckhoven, Christine   +5 more
core   +1 more source

A novel mutation in the tropomyosin 1 gene in a Chinese patient with hypertrophic cardiomyopathy

All Life, 2022
Hypertrophic cardiomyopathy (HCM) is an inherited heart disease characterized by left ventricular hypertrophy. Although sarcomeric gene mutations can explain many HCM cases, the genetic basis of approximately half of HCM cases remains elusive.
Ke Gong, Qin Wu, Ting Xie, Yong Luo, Hui Guo, Zhiping Tan, Jinlan Chen, Yifeng Yang, Li Xie   +8 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

CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma

Clinical Medicine Insights: Case Reports, 2019
Background: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene.
Farhad Salehzadeh, Manuchehr Barak, Saied Hosseiniasl, Ehsan Shahbazfar   +3 more
doaj   +1 more source

Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E. [PDF]

PLoS ONE, 2013
The HOXB13 missense mutation G84E (rs138213197) is associated with increased risk of prostate cancer, but the current estimate of increased risk has a wide confidence interval (width of 95% confidence interval (CI) >200-fold) so the point estimate of 20 ...
Robert J MacInnis, Gianluca Severi, Laura Baglietto, James G Dowty, Mark A Jenkins, Melissa C Southey, John L Hopper, Graham G Giles   +7 more
doaj   +1 more source