Results 271 to 280 of about 1,662,601 (323)

Analyzing pathogenic variants in mismatch repair genes: personalized prevention strategies for lynch syndrome in Chinese families. [PDF]

Front Med (Lausanne)
Wang X, Ni H, Zhu L, Huang H, Deng A, Hu J, Cai W, Li J.   +7 more
europepmc   +1 more source

Low Mutation Rate and Atypical Mutation Spectrum in Prasinoderma coloniale: Insights From an Early Diverging Green Lineage. [PDF]

Genome Biol Evol
Mettrop L, Lipzen A, Vandecasteele C, Eché C, Labécot A, Barry K, Grigoriev IV, Piganeau G, Krasovec M.   +8 more
europepmc   +1 more source

The homozygous LRRK2.p.N1437D point mutation mouse is a novel model of parkinsonism. [PDF]

NPJ Parkinsons Dis
Gan LH, Sun YM, Zhou XY, Qi ZY, Liu FT, Tang YL, Yu WB, Xiao BG, Wang J, Wu JJ.   +9 more
europepmc   +1 more source

A novel c.1468 G > A GRN mutation causes frontotemporal dementia in a Chinese Han family. [PDF]

Eur J Med Res
Xia M, Gao C, Shang J, Li D, Yang A, Zang W, Zhang J.   +6 more
europepmc   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes. [PDF]

Sci Rep
Munawar S, Anderson CL, Reilly L, Woltz R, Kiani YS, Chiamvimonvat N, Eckhardt LL.   +6 more
europepmc   +1 more source

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang, Daniel Kargilis, Thomas Tropea, John Robinson, Junchao Shen, Eliza M. Brody, Ann Brinkmalm, Simon Sjödin, Adama J. Berndt, Marc Carceles‐Cordon, EunRan Suh, Vivianna M. Van Deerlin, Kaj Blennow, Daniel Weintraub, Edward B. Lee, Henrik Zetterberg, Alice S. Chen‐Plotkin   +16 more
wiley   +1 more source

Observational study of the efficacy and safety of first-line osimertinib and later treatments for uncommon epidermal growth factor receptor-activating mutation-positive advanced non-small cell lung cancer. [PDF]

Jpn J Clin Oncol
Hirata T, Watanabe K, Hosomi Y, Yoh K, Usui K, Kishi K, Naka G, Tamano S, Uemura K, Kunitoh H.   +9 more
europepmc   +1 more source

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez, Linn Oftedal, Johannes Lange, Diego Alejandro Tovar‐Rios, Ole‐Bjørn Tysnes, Claire Paquet, Marta Marquié, Mercè Boada, Daniel Alcolea, Konrad Rejdak, Ewa Papuc, Jakub Hort, Cristian Falup‐Pecurariu, Dag Aarsland, Guido Alves, Jodi Maple‐Grødem   +15 more
wiley   +1 more source

Comprehensive bioinformatics analysis of co-mutation of <i>FLG2</i> and <i>TP53</i> reveals prognostic effect and influences on the immune infiltration in ovarian serous cystadenocarcinoma. [PDF]

Transl Cancer Res
Li M, Han D, Jin H.
europepmc   +1 more source