Results 81 to 90 of about 63,140 (263)

NUT Midline Carcinoma: A Rare Solid Tumour Characterized by Chromosome Rearrangement. [PDF]

Evid Based Complement Alternat Med, 2022
Zhang H, Kong W, Liang W.
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Global chromosome rearrangement induced by CRISPR-Cas9 reshapes the genome and transcriptome of human cells. [PDF]

Nucleic Acids Res, 2022
Liu Y, Ma G, Gao Z, Li J, Wang J, Zhu X, Ma R, Yang J, Zhou Y, Hu K, Zhang Y, Guo Y.   +11 more
europepmc   +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen, Yi‐Bing Chen, Xin Li, Xiang Xu, Ge Guo, Han‐Lu Li, Yong‐Ming Yao, Chun‐Lei Liu   +7 more
wiley   +1 more source

An Incidental Detection of a Cryptic Complex Chromosome Rearrangement Found During NGS Based PGT-SR: A Case Report. [PDF]

J Reprod Infertil, 2022
Özer L, Aktuna S, Unsal E, Baltaci A, Baltaci V.   +4 more
europepmc   +1 more source

Gonadal development in scorpion mud‐turtles, Kinosternon scorpioides, in a controlled environment

The Anatomical Record, EarlyView.
Stage 20 was identified as the critical point for gonadal differentiation in Kinosternon scorpioides, providing key insights into sex determination. These findings enhance conservation strategies by supporting reproductive management and population viability in both in situ and ex situ programs. Abstract Research on gonadal development including sexual
Brenda Braga, Verônica Oliveira‐Bahia, Maria Auxiliadora Ferreira, José Ribamar Felipe Marques, Diva Araújo Guimarães   +4 more
wiley   +1 more source

Agmatoploidy and symploidy: a critical review

Genetics and Molecular Biology
Agmatoploidy is a type of chromosome rearrangement that involves the fragmentation of an entire chromosome complement, generating a diploid with double its original chromosome number.
Marcelo Guerra
doaj   +3 more sources

Telomere-to-Telomere Genome Sequences across a Single Genus Reveal Highly Variable Chromosome Rearrangement Rates but Absolute Stasis of Chromosome Number. [PDF]

J Fungi (Basel), 2022
Quenu M, Treindl AD, Lee K, Takemoto D, Thünen T, Ashrafi S, Winter D, Ganley ARD, Leuchtmann A, Young CA, Cox MP.   +10 more
europepmc   +1 more source

Male reproductive system in stenopodidean shrimps: Unveiling basal reproductive traits in shrimp‐like Pleocyemata (Stenopodidae and Spongicolidae)

The Anatomical Record, EarlyView.
Abstract Stenopodidea represents one of the basal lineages within Pleocyemata, yet the male reproductive system (MRS) of this group remains poorly understood, with limited information available regarding its morphology and function. This study provides the first detailed description of the MRS in four stenopodidean shrimp species from two families ...
Caio Santos Nogueira, Lucas Rezende Penido Paschoal, Fernando José Zara   +2 more
wiley   +1 more source

A single genomic region involving a putative chromosome rearrangement in flat oyster (Ostrea edulis) is associated with differential host resilience to the parasite Bonamia ostreae. [PDF]

Evol Appl, 2022
Sambade IM, Casanova A, Blanco A, Gundappa MK, Bean TP, Macqueen DJ, Houston RD, Villalba A, Vera M, Kamermans P, Martínez P.   +10 more
europepmc   +1 more source