Results 201 to 210 of about 260,369 (317)

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022
Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand   +31 more
wiley   +1 more source

Single Nucleotide Polymorphism Highlighted via Heterogeneous Light-Induced Dissipative Structure. [PDF]

ACS Sens
Toyouchi S, Oomachi S, Hasegawa R, Hayashi K, Takagi Y, Tamura M, Tokonami S, Iida T.   +7 more
europepmc   +1 more source

Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 quinone oxidoreductase and sulfotransferase genes [PDF]

, 2001
Aritoshi Iida, A. Sekine, Susumu Saito, Tetsuhisa Kitamura, Takuya Kitamoto, Satoshi Osawa, C. Mishima, Yusuke Nakamura   +7 more
openalex   +1 more source

Mutation update for the ACTN2 gene

Human Mutation, Volume 43, Issue 12, Page 1745-1756, December 2022., 2022
Abstract ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal titins, and thus contributes to sarcomere stability.
Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese   +13 more
wiley   +1 more source

SBE-TAGS: An array-based method for efficient single-nucleotide polymorphism genotyping

, 2000
Joel N. Hirschhorn, Pamela Sklar, Kerstin Lindblad‐Toh, Yin-Mei Lim, Melisa Ruiz‐Gutierrez, Stacey Bolk, Bradley W. Langhorst, S. F. Schaffner, Ellen Winchester, Eric S. Lander   +9 more
openalex   +1 more source

Single nucleotide polymorphism ( D68D , T to C ) in the syntaxin 1A gene correlates to age at onset and insulin requirement in Type II diabetic patients [PDF]

, 2001
K Tsunoda, Tokio Sanke, Takayuki Nakagawa, Hiroto Furuta, K Nanjo   +4 more
openalex   +1 more source

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database

Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022
Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +8 more
wiley   +1 more source

Exploring the Influence of Genetic Single-Nucleotide Polymorphism (SNPs) on Endodontic Pathologies: A Comprehensive Review. [PDF]

Cureus
Falatah AM, Alturki SA, Aldahami AI, Alrashidi NA, Sinnah Y, Aldgeel RM, Alanazi KZ, Alkhaled AS, ALjuaid TS, Alotaibi NH, Altwijri WJ.   +10 more
europepmc   +1 more source

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia [PDF]

, 2001
Shuichi KURE, Kazuhiro Kojima, T Kudo, K. Kanno, Yoshitsugu Aoki, Yoichi Suzuki, Toshikatsu Shinka, Yasushi Sakata, K. Narisawa, Yoichi Matsubara   +9 more
openalex   +1 more source

Single nucleotide polymorphism and promoter methylation analysis of protein tyrosine phosphatase 1B in patients with myeloproliferative neoplasms. [PDF]

Transl Cancer Res
Zhou J, Wu H, Li B, Zhou L, Zhang W, Ding Y, Zhu X, Lu H, Xiu B, Liang A, Fu J.   +10 more
europepmc   +1 more source