Results 191 to 200 of about 137,449 (345)

3p14 Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

Estimating the distribution of fitness effects of loss of heterozygosity (LOH) events using an engineered library of Saccharomyces cerevisiae. [PDF]

PLoS Genet
Ke YH, Orozco-Quime M, Bauman J, Carvalho T, Landry GA, Ge S, Kumar A, James TY.   +7 more
europepmc   +1 more source

Mutations in Homologous Recombination Genes and Loss of Heterozygosity Status in Advanced-Stage Breast Carcinoma. [PDF]

Cancers (Basel), 2023
Bartow BB, Siegal GP, Yalniz C, Elkhanany AM, Huo L, Ding Q, Sahin AA, Guo H, Magi-Galluzzi C, Harada S, Huang X.   +10 more
europepmc   +1 more source

9p21 Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

American Journal of Hematology, EarlyView.
Bo A. Wan, Hamish Nicolson, Heather A. Leitch, Ryan J. Stubbins, Luke Y. C. Chen, Timothy Murray, Amy Trottier, Anthony Gador   +7 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Pattern-based p53 and p16 Immunohistochemistry as a Potential Alternative to Loss of Heterozygosity Testing for Progression Risk of Oral Epithelial Dysplasia. [PDF]

Cancer Prev Res (Phila)
Liu KYP, Ko YCK, Poh CF.
europepmc   +1 more source

Polyploidy as an Adaptation against Loss of Heterozygosity in Cancer. [PDF]

Int J Mol Sci, 2022
Archetti M.
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source