Results 111 to 120 of about 43,378 (245)

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, Volume 101, Issue 9, Page 2197-2213, September 2026.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

Error in Homozygote Classification [PDF]

JAMA Psychiatry, 2014
openaire   +1 more source

Does Next Generation Sequencing (NGS)‐Based CYP2D6 Sequencing Improve Genotype–Phenotype Concordance in Tamoxifen‐Treated Patients?

Clinical Pharmacology &Therapeutics, Volume 120, Issue 3, Page 731-744, September 2026.
CYP2D6 metabolizes about 20% of commonly used drugs, including tamoxifen, a major hormone therapy for breast cancer. Although the relationship between tamoxifen pharmacokinetics and CYP2D6 genotype has been demonstrated, residual variability in drug exposure remains unexplained.
Jeanne Petit, Julien Plenecassagnes, Aurelie Brice, Florence Dalenc, Ludovic Mallet, Etienne Chatelut, Ayman Al Saati, Fabienne Thomas   +7 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

The rs10781468 Genetic Polymorphism of the Gαq (GNAQ) Gene Is Associated With Responsiveness to Opioid Analgesics in Patients With Postoperative and Cancer Pain: An Exploratory Study

Neuropsychopharmacology Reports, Volume 46, Issue 3, September 2026.
In our exploratory hypothesis‐generating study using patients with postoperative pain and cancer pain, for rs10781468 in the GNAQ gene, the minor allele was associated with reduced opioid consumption and an increased pain threshold. ABSTRACT Background G protein–coupled receptors, the largest class of cell surface receptors, are ubiquitously expressed ...
Hiroaki Owada, Daisuke Nishizawa, Tsutomu Mieda, Miki Tsujita, Hideyuki Nakagawa, Shigeki Yamaguchi, Rikuhei Tsuchida, Yaeko Yokoshima, Akira Kitamura, Masakazu Hayashida, Ken‐ichi Fukuda, Tatsuya Ichinohe, Kazutaka Ikeda, Makoto Kurano, Masahiko Sumitani, Kanji Uchida   +15 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

Iron Phenotypes and Reports of Menses, Pregnancies, and Live Births in Females With HFE p.C282Y Homozygosity and HFE wt/wt: A Cross‐Sectional Study

Reproductive, Female and Child Health, Volume 5, Issue 3, September 2026.
ABSTRACT Objective To compare iron phenotypes and questionnaire reports about menses, pregnancies, and live births in females with HFE p.C282Y (rs1800562) homozygosity (Y/Y) and HFE wt/wt (absence of p.C282Y and p.H63D (rs1799945) (wt/wt)). Methods We compared post‐screening iron phenotypes and questionnaire reports of self‐identified non‐Hispanic ...
James C. Barton, J. Clayborn Barton, Ronald T. Acton   +2 more
wiley   +1 more source

p.Gly693Arg Homozygote Mutation in Dubin-Johnson Syndrome with Atypical Liver Biopsy due to Reactivation of Hepatitis B Concomitant with Persistent Loss of Kidney Function

Acta Medica Indonesiana
Dubin-Johnson syndrome is a rare genetic disease that causes impaired transport of bilirubin. In most cases, there will be no symptoms. However, some people might develop jaundice due to certain conditions.
Juferdy Kurniawan
doaj  

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

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, Volume 110, Issue 3, Page 379-388, September 2026.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Tahsin Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source