Results 51 to 60 of about 36,869 (295)

Characteristics and survival of patients with advanced cancer and p53 mutations. [PDF]

, 2014
P53 mutations are associated with invasive tumors in mouse models. We assessed the p53mutations and survival in patients with advanced cancer treated in the Phase I Program. Of 691 tested patients, 273 (39.5%) had p53 mutations.
Aldape, Kenneth, Fu, Siqing, Hess, Kenneth R, Hong, David S, Janku, Filip, Kurzrock, Razelle, Naing, Aung, Palmer, Gary A, Said, Rabih, Thomas, Christoforos, Tsimberidou, Apostolia M, Wheler, Jennifer J, Ye, Yang   +12 more
core   +4 more sources

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

Frontiers in Genetics, 2019
Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily, Felipe Avila, Pranab J. Das, Michelle A. Kutzler, Terje Raudsepp   +4 more
doaj   +1 more source

Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84 [PDF]

, 1986
The localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and nonradioactive in situ hybridization techniques with a DNA clone designated L1.84.
A. Brückner, AHN Hopman, AL Jørgensen, AR Mitchell, B Trask, BU Zabel, CD Bloomfield, D Pinkel, GA Rappold, GA Rappold, H Hoehn, H. D. Hager, H. P. Scholl, HF Willard, J Wolfe, J. Landegent, JC Wu, JE Landegent, JE Landegent, L Manuelidis, LA Herzenberg, M Schardin, M Schmid, M Spaeter, M. Schardin, M. van der Ploeg, MM LeBeau, P Devilee, P Devilee, P. Devilee, P. Pearson, T Cremer, T. Cremer, W Schempp   +33 more
core   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

Hi-C analysis of genomic contacts revealed karyotype abnormalities in chicken HD3 cell line

BMC Genomics, 2023
Background Karyotype abnormalities are frequent in immortalized continuous cell lines either transformed or derived from primary tumors. Chromosomal rearrangements can cause dramatic changes in gene expression and affect cellular phenotype and behavior ...
A. Maslova, V. Plotnikov, M. Nuriddinov, M. Gridina, V. Fishman, A. Krasikova   +5 more
doaj   +1 more source

Ribosome Homeostasis Regulated by SETD2 Preserves Intestinal Epithelial Barrier

Advanced Science, EarlyView.
SETD2 ablation causes dysregulation and recruitment defects of ribosome biogenesis factors, resulting in translational disorders of barrier maintenance genes, thereby compromising the intestinal barrier. These findings unveil a previously unappreciated role of ribosome biogenesis and translational regulation in preserving the intestinal epithelial ...
Hanyu Rao, Aiting Wang, Yue Xu, Wenxin Feng, Chunxiao Ma, Ziyi Wang, Wei Zhang, Wenqiong Su, Xiuying Xiao, Wei‐Qiang Gao, Xianting Ding, Li Li   +11 more
wiley   +1 more source

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics [PDF]

, 1990
DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization.
Cremer, Thomas, Daumer, C., Jauch, Anna, Lichter, Peter, Murken, J., Schroeder-Kurth, T.   +5 more
core   +1 more source

Decoding Human Placental Cellular and Molecular Responses to Obesity and Fetal Growth

Advanced Science, EarlyView.
Women with obesity often deliver large‐for‐gestational‐age (LGA) infants. Single‐nucleus RNA sequencing of term placenta reveals that hypoxia and TNF‐α signaling in syncytiotrophoblasts are featured in maternal obesity, but inflammatory signatures in Hofbauer cells and response to lipid or carbohydrate metabolism in fibroblasts are specific to LGA.
Hong Jiang, Emilie Derisoud, Denise Parreira, Nayere Taebnia, Paulo R. Jannig, Reza Zandi Shafagh, Allan Zhao, Congru Li, Macarena Ortiz, Manuel Alejandro Maliqueo, Elisabet Stener‐Victorin, Volker M. Lauschke, Qiaolin Deng   +12 more
wiley   +1 more source

Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss

Journal of Human Reproductive Sciences, 2020
Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimester ...
Ghada Mohamed Elhady, Soha Kholeif, Nahla Nazmy   +2 more
doaj   +1 more source