Results 261 to 270 of about 239,120 (310)

Benefit from maintenance with PARP inhibitor in newly diagnosed ovarian cancer according to BRCA1/2 mutation type and site: a multicenter real-world study. [PDF]

ESMO Open
Marchetti C, Fagotti A, Fruscio R, Cassani C, Incorvaia L, Perri MT, Sassu CM, Camnasio CA, Giudice E, Minucci A, Seca M, Arbustini E, Vertechy L, De Bonis M, Boccia SM, Giannarelli D, Salutari V, Distefano M, Ferrandina MG, Nero C, Musacchio L, Russo A, Scambia G, Lorusso D.   +23 more
europepmc   +1 more source

Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project

Annals of Human Genetics, EarlyView.
Abstract Introduction An ethics‐guided decision‐making framework was developed for applying pathology‐supported genetic testing, a multifaceted pharmacodiagnostic approach that translates population risk stratification into clinical utility. We introduce this service, supported by the Open Genome Project, which aligns with the beneficence principle in ...
Manie De Klerk, Nicole Van Der Merwe, Johny Erasmus, Lindiwe Whati, Kelebogile E. Moremi, Daniel W. Olivier, Maritha J. Kotze   +6 more
wiley   +1 more source

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype

Annals of Human Genetics, EarlyView.
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley   +1 more source

Limited Diversity of Thermal Adaptation to a Critical Temperature in <i>Zymomonas mobilis</i>: Evidence from Multiple-Parallel Laboratory Evolution Experiments. [PDF]

Int J Mol Sci
Pattanakittivorakul S, Kato S, Kuga T, Kosaka T, Matsutani M, Murata M, Ishikawa M, Charoenpunthuwong K, Thanonkeo P, Yamada M.   +9 more
europepmc   +1 more source

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

Hypertension and hyperkalemia associated with Pro701Leu mutation in the NR3C2 gene: A case report. [PDF]

Medicine (Baltimore)
Kwon L, Griffiths J, Greenberg S, Assante W.   +3 more
europepmc   +1 more source

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders [PDF]

, 2018
et al.,, Warner, Brad W
core   +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

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