Results 131 to 140 of about 83,934 (227)

Pericentrosomal Redistribution of the Endoplasmic Reticulum Ensures Organelle Symmetric Inheritance and Mitotic Progression

Advanced Science, EarlyView.
Upon mitotic entry, RTN4 relocalizes to the pericentrosomal region, forming a more tubular ER network around centrosomes. CDK1‐mediated phosphorylation of RTN4 increases its interaction with Rab11 GTPase, facilitating dynein‐dependent transport of RTN4 to the pericentrosomal region.
Xiangyu Xu, Yalin Liu, Rongyi Wang, Wenwen Xu, Hao Shi, Ning Huang, Junlin Teng, Jin Meng, Pengli Zheng, Jianguo Chen   +9 more
wiley   +1 more source

GPU-accelerated linkage disequilibrium scans reveal non-independent assortment of human non-homologous chromosomes. [PDF]

Genome Biol
Lv W, Zou Y, Shang Z, Wei S, Sun C, Xu J, Chen H, Tao J, Tian H, Bi S, Guo X, Dong Y, Zhang C, Zhang M, Lv H, Jiang Y.   +15 more
europepmc   +1 more source

DHODH Drives Sunitinib Resistance Via a Non‐Enzymatic Mechanism by Inhibiting TRIM28 Ubiquitination and Consequent VEGFA Activation in RCC

Advanced Science, EarlyView.
This non‑enzymatic function of DHODH drives sunitinib resistance by competing with TRIM37 to block TRIM28 ubiquitination, thereby stabilizing TRIM28 and activating VEGFA transcription. Disrupting the DHODH–TRIM28 interaction with lisaftoclax restores drug sensitivity.
Shijie Qian, Shihang Pu, Zhipeng Xu, Yiheng Ding, Ling Jin, Baochao Li, Qi Li, Xiaohai Xi, Zengjun Wang, Jiajun Xing, Aiming Xu   +10 more
wiley   +1 more source

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing. [PDF]

Genome Res
Bilgrav Saether K, Salazar Mantero A, Ek M, Pettersson M, Syk Lundberg E, Grochowski CM, Carvalho CMB, Eisfeldt J, Lindstrand A.   +8 more
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

Condensin accelerates long-range intra-chromosomal interactions. [PDF]

Nat Commun
Zou F, Li Y, Földes T, Pinholt HD, Smith C, Mirny L, Bai L.   +6 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

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

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

Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]

Int J Womens Health
Mu Y, Jing Y, Liu X, Lin F, He Q, Li Y, Ming X, Chen G, Wang Y, Zhu T.   +9 more
europepmc   +1 more source