Results 141 to 150 of about 79,587 (203)

Cytogenetics of Neotropical fishes: Patterns, advances and prospects after five decades of research. [PDF]

Genet Mol Biol
Nirchio M, Oliveira C.
europepmc   +1 more source

Single‐Cell Profiling Identifies SLC2A5‐Mediated Fructose Metabolism as a Vulnerability in Primary CNS Lymphoma

Advanced Science, EarlyView.
Glucose deprivation in the primary CNS lymphoma (PCNSL) tumor microenvironment drives SLC2A5 (encoding GLUT5)‐dependent fructose metabolism in tumor cells, while hypoxia induces HIF‐mediated SLC2A5 expression in tumor‐supportive macrophages, revealing SLC2A5‐driven fructose utilization as a shared and targetable metabolic vulnerability across malignant
Qiaoli Wu, Qianru Zhang, Wenqiang Yan, Lu Sun, Yiran Cui, Bolin Liu, Guoqing Han, Feng Zhang, Ke Pu, Mingchao Zhang, Xiaobing Zhang, Qingguo Li, Gang An, Yuxuan Liu   +13 more
wiley   +1 more source

Kinetic analysis of strand invasion intermediates during C. elegans meiosis reveals continuous sister- and homolog-directed repair. [PDF]

Genetics
Hamrick A, Cope HD, Forbis D, Rog O.
europepmc   +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

Investigating the evolution of large meiotic rings of multiple X and Y sex chromosomes in two Leptodactylus frog species (Anura, Leptodactylidae). [PDF]

Commun Biol
Vidal JAD, Charlesworth D, Ma WJ, Zhou Q, Utsunomia R, Gomes AJB, da Silva AB, Porto-Foresti F, Liehr T, Cioffi MB.   +9 more
europepmc   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Resolution of a human chromosomal mystery: Evolutionary complexity revealed. [PDF]

Cell Genom
Rogers J.
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

Extensive genetic interactions (epistasis) linked to alcohol use disorder in a high-risk population. [PDF]

Commun Biol
Listopad S, Peng Q.
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source