Results 31 to 40 of about 247,558 (284)

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

BMC Medical Genetics, 2018
Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with ...
Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang   +6 more
doaj   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

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

Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation

Molecular Medicine, 2023
Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo, Yifan Zhang, Zhuofan Xu, Shidong Lv, Qiang Wei, Qiang Dang   +5 more
doaj   +1 more source

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]

, 2018
Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I, Lang, Y, Lu, J, Paiardini, A, Shao, L, Zhao, X   +5 more
core   +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

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +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