Results 91 to 100 of about 8,531 (188)

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1773-1782, August 2026.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye. [PDF]

Eur J Hum Genet, 2023
Chesneau B, Ivashchenko V, Habib C, Gaston V, Escudié F, Morel G, Capri Y, Vincent-Delorme C, Calvas P, Chassaing N, Plaisancié J.   +10 more
europepmc   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Tackling mosaicism in gene edited livestock

Frontiers in Animal Science
The farming of livestock has a critical role to play in global nutritional security and poverty alleviation. To meet these goals through more efficient, environmentally sustainable and animal welfare focused means, gene editing technologies could be ...
Hamish A. Salvesen, Christopher G. Grupen, Gus R. McFarlane   +2 more
doaj   +1 more source

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

PLoS ONE, 2018
Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable ...
Peter C van den Akker, Anna M G Pasmooij, Hans Joenje, Robert M W Hofstra, Gerard J Te Meerman, Marcel F Jonkman   +5 more
doaj   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, Volume 101, Issue 4, Page 1877-1903, August 2026.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source

Clonal Hematopoiesis in Colorectal Cancer: Mechanisms and Implications

Cancer Medicine, Volume 15, Issue 8, August 2026.
ABSTRACT Clonal hematopoiesis (CH) arises from the expansion of hematopoietic stem and progenitor cells bearing somatic mutations, often in genes linked to epigenetic regulation and inflammation. Once considered a benign age‐related phenomenon, CH has gained increasing attention for its potential to influence cancer biology beyond hematologic ...
Chenyue Xia, Yi Lu, Jinhui Gu
wiley   +1 more source

TET2 as a Context‐Dependent Epigenetic Integrator in Clonal Hematopoiesis, Inflammation, Cancer, and Immunotherapy

Cell Biochemistry and Function, Volume 44, Issue 8, August 2026.
ABSTRACT Ten‐Eleven Translocation 2 (TET2) is an Fe(II)‐ and α‐ketoglutarate‐dependent dioxygenase that initiates active DNA demethylation by oxidizing 5‐methylcytosine (5mC). Beyond this enzymatic role, TET2 links DNA methylation dynamics with chromatin regulation, cellular metabolism, immune‐cell identity, and treatment response in a context ...
XiaoJie Liu, Jiangchen Liu, Liu Feng, Dan Xu, Xianling Wei, Dekuai Tong   +5 more
wiley   +1 more source

Direct measurement of the male germline mutation rate in individuals using sequential sperm samples

Nature Communications
Mutations that accumulate in the human male germline with age are a major driver of genetic diversity and contribute to genetic diseases. However, aging-related male germline mutation rates have not been measured directly in germline cells (sperm) at the
Jonathan E. Shoag, Amoolya Srinivasa, Caitlin A. Loh, Mei Hong Liu, Emilie Lassen, Shana Melanaphy, Benjamin M. Costa, Marta Grońska-Pęski, Nisrine T. Jabara, Shany Picciotto, Una Choi, Anyull D. Bohorquez, Christopher E. Barbieri, Pamela Callum, Anne-Bine Skytte, Gilad D. Evrony   +15 more
doaj   +1 more source

Passenger variants as pan‐clonal markers of pediatric AML: Implications for molecular MRD

HemaSphere, Volume 10, Issue 8, August 2026.
Abstract A streamlined, sensitive, and universal molecular method for MRD detection in pediatric AML remains an unmet clinical need. Here, we propose a novel approach based on tracking somatic non‐coding passenger variants. Using whole‐genome sequencing (WGS) of diagnostic bone marrow DNA, we identify patient‐specific somatic passenger variants, which ...
Ruth Shiloh, Dana Dayan, Ifat Geron, Maor Cohen, Tamar Feuerstein, Jorge Cano‐Nistal, Nurit Gal‐Mark, Shlomit Barzilai‐Birenboim, Dafna Gaash, Michal Hameiri‐Grossman, Avraham Kahan, Jamal Mahajna, Nino Oniashvili, Hava Rosenfeld, Dan Scharf, Keren Shichrur, Elena Shinderman‐Maman, Sarah Elitzur, Yehudit Birger, Shai Izraeli, Yosef E. Maruvka   +20 more
wiley   +1 more source