Results 191 to 200 of about 7,457,933 (340)

Study design and the sampling of deleterious rare variants in biobank-scale datasets. [PDF]

Proc Natl Acad Sci U S A
Steiner MC, Rice DP, Biddanda A, Ianni-Ravn MK, Porras C, Novembre J.   +5 more
europepmc   +1 more source

Population Genetics in the Human Microbiome.

Trends in Genetics, 2019
Nandita R. Garud, K. Pollard
semanticscholar   +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

Using large-scale population-based data to improve disease risk assessment of clinical variants. [PDF]

Nat Genet
Forrest IS, Huang KL, Eggington JM, Chung WK, Jordan DM, Do R.   +5 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Genotyping-by-sequencing of Illicium difengpi highlights its potential genetic diversity and conservation status. [PDF]

Sci Rep
Qin B, Hu Y, Huang Y, Liang Y, Guo X, Huang B.   +5 more
europepmc   +1 more source

CSF Biomarker‐Based Cognitive Trajectories in Parkinson's Disease‐Subjective Cognitive Decline

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive complaints without objective cognitive impairment in Parkinson's Disease, termed Parkinson's Disease‐Subjective Cognitive Decline (PD‐SCD), have been associated with cognitive decline. However, its progression is heterogeneous, highlighting the need for improved identification of patients at greater risk for deterioration ...
Jon Rodriguez‐Antiguedad, Arnau Puig‐Davi, Iñigo Ruíz‐Barrio, Javier Pagonabarraga, Anna Vázquez‐Oliver, Andrea Horta‐Barba, Jaime Kulisevsky, Saül Martínez‐Horta   +7 more
wiley   +1 more source

The apolipoprotein multigene family: biosynthesis, structure, structure-function relationships, and evolution.

Journal of Lipid Research, 1988
W H Li, M Tanimura, C C Luo, S Datta, L Chan   +4 more
doaj  

More Than <i>APOE</i>: Genetic Predictors in Alzheimer Disease in <i>APOE</i>ε3 Carriers. [PDF]

Neurol Genet
Peters N, Unschuld PG.
europepmc   +1 more source

Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Observation studies suggest that coffee consumption may lower the risk and delay the age‐at‐onset (AAO) of Parkinson's disease (PD). The aim of this study was to explore the causal relationship and genetic association between coffee consumption and the AAO, risk, and progression of PD. Using Mendelian randomization, we identified a significant
Dariia Kuzovenkova, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +3 more
wiley   +1 more source