Results 221 to 230 of about 6,270,911 (362)

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation. [PDF]

J Clin Immunol
Zhao R, Zhang Z, Mei S, Sun L, Zhang Q, Lv Q, Zhou F, Sun G, Zhou L, Tang X, An Y, Liu Z, Zhao X, Du H.   +13 more
europepmc   +1 more source

TRANSLOCATIONS BETWEEN THE X AND THE Y CHROMOSOMES OF DROSOPHILA MELANOGASTER [PDF]

, 1960
B. Nicoletti, Dan L. Lindsley
openalex   +1 more source

Nuclear‐Localized BCKDK Facilitates Homologous Recombination Repair to Support Breast Cancer Progression and Therapy Resistance

Advanced Science, EarlyView.
Under DNA damage, tumor cells rely on efficient DNA repair for survival and therapy resistance. This study has demonstrated that BCKDK localizes to breast cancer cell nuclei, where it binds to and phosphorylates RNF8, thereby blocking ubiquitin‐mediated degradation of RAD51 and enhancing HRR. A selective BCKDK inhibitor synergizes with clinical agents,
Haiying Liu, Jiaqian Feng, Tingting Pan, Pinggen Zhang, Ling Ye, Zetan Jiang, Zilong Zhou, Qiankun Mao, Jian Li, Xinyi Yang, Ping Gao, De Huang, Huafeng Zhang   +12 more
wiley   +1 more source

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

Aging activates escape of the silent X chromosome in the female mouse hippocampus. [PDF]

Sci Adv
Gadek M, Shaw CK, Abdulai-Saiku S, Saloner R, Marino F, Wang D, Bonham LW, Yokoyama JS, Panning B, Benayoun BA, Casaletto KB, Ramani V, Dubal DB.   +12 more
europepmc   +1 more source

The Distribution of X-Ray Induced Chromosomal Aberrations

, 1942
Karl Sax
openalex   +1 more source

Genetic characteristics of families of XO and XXY patients, including evidence of source of X chromosomes in 7 aneuploid patients. [PDF]

, 1968
Hubert C. Soltan
openalex   +1 more source

Single‐Cell Sequencing‐Guided Annotation of Rare Tumor Cells for Deep Learning‐Based Cytopathologic Diagnosis of Early Lung Cancer

Advanced Science, EarlyView.
This study presents an innovative method to generate high‐quality, objectively annotated cytology datasets without relying on expert involvement. Large‐scale single‐cell DNA sequencing is used as an objective ground truth of cell annotation for generating an accurate, unbiased dataset of exfoliated tumor cells from bronchoalveolar lavage cytology ...
Yichun Zhao, Ruoran Qiu, Zhuo Wang, Yunyun Li, Xu Yang, Yanlin Li, Xiaohan Shen, Yun Liu, Ziqiang Chen, Qihan You, Qihui Shi   +10 more
wiley   +1 more source

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023
Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, Giovanni Michelini, Francesca Dall'Ara, Claudia Rigamonti, Federico Monti, Paola Giovanna Vizziello, Angelo Selicorni, Donatella Milani, Simona Scaini, Antonella Costantino   +11 more
wiley   +1 more source

An Inference as to the Constitution of X-chromosome in Drosophila

, 1935
Hideo Kikkawa
openalex   +2 more sources