Results 121 to 130 of about 92,831 (207)

MIS12 Is Required for Kinetochore‐Microtubule Attachment in Oocyte Meiosis

Advanced Science, EarlyView.
A model depicting the role of MIS12 in K‐MT attachment during oocyte meiosis. The presence of MIS12 stabilizes bipolar K‐MT attachments by maintaining the function of NDC80 and its interaction with TUBB. This, in turn, promotes KNL1 assembly and subsequent SAC protein recruitment to kinetochores.
Jian Li, Chun‐Hui Zhang, Yong Wang, Cheng‐Yuan Li, Da‐Rong Wen, Xi Xia, Liang Zhou, Wei‐Ping Qian, Qing‐Yuan Sun, Chang‐Zhong Li   +9 more
wiley   +1 more source

Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa. [PDF]

Mol Cytogenet
Deng J, Liu M, Liu X, Meng X, Yang Y, Wang Y, Zhou L, Deng A, Liu J.   +8 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

Spectrum of Chromosomal Abnormalities in Abortus and Medically Terminated Fetal Samples From a Tertiary Care Center in the Sub-Himalayan Region of North India. [PDF]

Cureus
Malhotra R, Jadli M, Bahadur A, Vatsa M, Singh R, Chaturvedi J, Mathuria YP, Jakhar B, Singla M, Chowdhury N.   +9 more
europepmc   +1 more source

The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis. [PDF]

Chromosome Res
Pires S, França I, Oliveira P, Jorge P, Liehr T, Oliva-Teles N.   +5 more
europepmc   +1 more source

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents

American Journal of Hematology, EarlyView.
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
Saubia Fathima, Margaret Mei‐Kay Wong, Jesus Gonzalez‐Lugo, Susan M. Geyer, Ali Alsugair, Maria Sirenko, Kimberly J. Langer, Terra L. Lasho, Christy Finke, Jun Choi, Maher Abdul‐Hay, Gary Ho, Mark R. Litzow, Aasiya Matin, Urshila Durani, Mehrdad Hefazi, William J. Hogan, Mithun V. Shah, Aref Al‐Kali, Kebede H. Begna, Naseema Gangat, Antoine N. Saliba, Ronald S. Go, Tariq Kewan, Gabriel Bartoo, Jade Kutzke, Kristen McCullough, Kenneth J. Warrington, Megan Sullivan, Kaaren K. Reichard, Horatiu Olteanu, Hemant Murthy, Talha Badar, Yael Kusne, Jeanne Palmer, Saurabh Chhabra, Nathan Punwani, Mary Riwes, Joseph P. McGuirk, Elizabeth F. Krakow, Amelia Langston, Taxiarchis Kourelis, David Dingli, James Foran, Matthew J. Koster, Mrinal M. Patnaik, David B. Beck, Hassan B. Alkhateeb, Abhishek A. Mangaonkar   +48 more
wiley   +1 more source

Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes. [PDF]

Mol Cytogenet
Gao T, Wei H, Zheng Y, Xiao Y, Zheng M, Hong S.   +5 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

Functional and genomic characterization of LCN2-deficient PC-3 cells reveals insights into prostate cancer progression. [PDF]

Front Mol Biosci
Gäberlein K, Keller DT, Schröder-Lange SK, Torkler P, Grimm DG, Steinlein C, Haaf T, Nanda I, Weiskirchen R.   +8 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