Results 111 to 120 of about 43,307 (224)

The Effect of CYP1A2 Gene Polymorphisms on Caffeine Pharmacokinetics and Exercise Performance in Male Recreational Athletes

European Journal of Sport Science, Volume 26, Issue 7, July 2026.
ABSTRACT This study examined the effects of caffeine consumption on endurance exercise performance, and the influence of CYP1A2 gene polymorphisms in caffeine pharmacokinetics and exercise performance. The data sets of two randomised, double blind, placebo‐controlled crossover study design experiments have been merged.
Chloe Masters, Ajmol Ali, Claire Badenhorst, Martin Dickens, Kay Rutherfurd‐Markwick   +4 more
wiley   +1 more source

Influence of an AQP4 haplotype and sleep duration on early Alzheimer's disease. [PDF]

Alzheimers Dement
Palatsides EL, Yiallourou S, Himali D, Cavuoto MG, Baril AA, Yang Q, Peloso GM, Ryan J, El Fakhri G, Ghosh S, Thibault E, DeCarli CS, Johnson KA, Beiser AS, Seshadri S, Himali JJ, Pase MP.   +16 more
europepmc   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Context-dependent interaction between oxytocin gene polymorphisms and alcohol dependence in modulating negative emotions during acute alcohol withdrawal in adult males. [PDF]

Front Psychiatry
Xu Z, Ye X, Shen G, Chen YH, Luo X, Sun H, Kang Y, Wang W, Zhou H, Chen L, Wang F, Liu Y.   +11 more
europepmc   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

Exploring the Role of <i>HER1</i> and <i>HER2</i> Gene Variants in Breast Cancer Susceptibility: A Case-Control Study in Bangladesh. [PDF]

Health Sci Rep
Tabassum R, Abid AA, Shithi SSI, Islam S, Rafique URB, Shultana S, Mohiuddin M, Tanjum S, Haque MA.   +8 more
europepmc   +1 more source

A Practical Framework for GT‐Seq Panel Optimization

Molecular Ecology Resources, Volume 26, Issue 5, July 2026.
ABSTRACT Genotyping‐in‐thousands by sequencing (GT‐seq) panels are powerful tools in ecological, evolutionary and conservation genomics, yet the optimization process critical for robust and reproducible genotyping remains poorly formalized. Here, we present an iterative workflow for GT‐seq panel optimization that emphasizes systematic refinement ...
Chandika RG, Caitlin N. Ott‐Conn, Peter T. Euclide, Julie A. Blanchong, Angela Schmoldt, Randy W. DeYoung, Daniel P. Walsh, Wes A. Larson, Emily K. Latch   +8 more
wiley   +1 more source

Genetic insights into unexplained infant jaundice: a study from northern Guangdong, China. [PDF]

Front Pediatr
Gao F, Li S, Chen Y, Zhou Y, Hu L, Qiu J.   +5 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Error in Homozygote Classification [PDF]

JAMA Psychiatry, 2014
openaire   +1 more source