Results 281 to 290 of about 241,061 (333)

Decoding the Role of CDCA Genes in Breast Cancer Progression: Insights From in Silico and Functional Assay

Asia-Pacific Journal of Clinical Oncology, EarlyView.
Investigating the diagnostic potential and functional role of CDCA genes in breast cancer. ABSTRACT Background The cell division cycle‐associated (CDCA) genes regulate key cellular processes like cell cycle progression and division. This study evaluates the diagnostic and clinical relevance of CDCA genes in breast cancer.
Yongsheng Zhao, Xiaocha Ma, Jun Zhou
wiley   +1 more source

Comprehensive αβ T‐Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8‐Deficient Patients

Allergy, EarlyView.
T cell receptor repertoire analysis by high‐throughput immune repertoire RNA‐sequencing in the patients with DOCK8 deficiency. Comprehensive comparisons revealed a restricted TCR repertoire diversity in the patients. Additional assessments showed potential auto‐reactive CD8+ T cell clones in the patients.Abbreviations: DOCK8, dedicator of cytokinesis ...
Ceren Bozkurt, Gökhan Cildir, Umran Aba, Rahmi Kutay Erdogan, Nicholas I Warnock I, Chung Hoow Kok, Asena Pinar Sefer, Sule Haskologlu, Sidem Didar Tekeoglu, Gülşah Merve Kılınç, Canberk Ipsir, Tugba Arikoglu, Aylin Kont Ozhan, Saliha Esenboga, Ahmet Özen, Elif Karakoç‐Aydiner, Sevgi Bilgiç Eltan, Çigdem Aydogmus, Candan Islamoglu, Kübra Baskın, Betul Karaatmaca, Ayse Metin, Deniz Çagdaş, Figen Dogu, Aydan Ikinciogullari, Safa Baris, Baran Erman   +26 more
wiley   +1 more source

PON-Tm: A Sequence-Based Method for Prediction of Missense Mutation Effects on Protein Thermal Stability Changes. [PDF]

Int J Mol Sci
Kuang J, Zhao Z, Yang Y, Yan W.
europepmc   +1 more source

Central Diabetes Insipidus Associated with a Missense Mutation in the Arginine Vasopressin Gene that Replaces Ala at the Carboxyterminus of the Signal Peptide with Thr.

, 1998
Akiko Kawakami, Yasuyuki Okamoto, Tsunehiko Yamamoto, Youichi Tatsumi, Takami Miki, Shiro Tanaka, Satoru Fujii   +6 more
openalex   +2 more sources

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35. [PDF]

J Biol Chem
Aguila A, Salah S, Kulasekaran G, Shweiki M, Shaul-Lotan N, Mor-Shaked H, Daana M, Harel T, McPherson PS.   +8 more
europepmc   +1 more source

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

, 1999
R.J.E. Jongbloed, A.A.M. Wilde, J.L.M.C. Geelen, P. Doevendans, C. Schaap, I. Van Langen, J. Peter van Tintelen, J.M. Cobben, G.C.M. Beaufort-Krol, J.P.M. Geraedts, H.J.M. Smeets   +10 more
openalex   +1 more source

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, EarlyView.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis. [PDF]

Int J Mol Sci
Bernard E, Cluse F, Bohic A, Hermier M, Raoul C, Leblanc P, Guissart C.   +6 more
europepmc   +1 more source

A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q [PDF]

, 2004
Andley, Usha P, Mackay, Donna S, Shiels, Alan   +2 more
core   +1 more source

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants

Andrology, EarlyView.
Abstract Background Small RNAs interacting with PIWI (piRNAs) play a crucial role in regulating transposable elements and translation during spermatogenesis and are essential in male germ cell development. Disruptions in the piRNA pathway typically lead to severe spermatogenic defects and thus male infertility. The HENMT1 gene is a key player in piRNAs
Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Caroline Cazin, Jean‐Pascal Hograindleur, Marie Bidart, Emeline Fontaine, Pauline Plouvier, Florence Puch, Véronique Satre, Christophe Arnoult, Selima Fourati Ben Mustapha, Raoudha Zouari, Nicolas Thierry‑Mieg, Pierre F. Ray, Zine‑Eddine Kherraf, Charles Coutton, Guillaume Martinez   +17 more
wiley   +1 more source