Results 201 to 210 of about 1,560,009 (266)

Single‐Cell Insights Into Pathogenic Profile of Orchitis and SREBP2‐Associated Cholesterol Dysregulation in Spermatogenic Failure

Advanced Science, EarlyView.
A first single‐cell atlas of human orchitis reveals coordinated germ‐cell loss, somatic niche dysfunction, and immune‐metabolic remodeling. Aberrant SREBP2 activation in testicular somatic cells emerges as a central pathogenic node, while Fatostatin‐mediated inhibition of the SREBP pathway improves spermatogenesis, fibrosis, and lipid accumulation in a
Yanlin Tang, Qiaoling Jiang, Yuwen Liu, Wenxiu Zhang, Lina Cui, Xiaojian Lu, Ziyan Zhuang, Jianxing Cheng, Songzhan Gao, Yangyi Fang, Kai Hong, Jie Qiao, Xiaoyan Wang, Hui Jiang, Zhe Zhang, Jingtao Guo, Qiang Liu   +16 more
wiley   +1 more source

HiCPotts: An R/Bioconductor package to identify significant interactions in chromosome conformation capture data and model sources of biases

Osuntoki IG, Harrison A, Dai H, Bao Y, Zabet NR.   +4 more
europepmc   +1 more source

MAGI3 Acts as an Intestinal Epithelial Gatekeeper in Inflammation‐Associated Colorectal Cancer by Suppressing the STAT3‐CCL2 Axis and TAM‐Mediated Immunosuppression

Advanced Science, EarlyView.
Our study identifies MAGI3 as an intestinal epithelial gatekeeper that restrains inflammation‐associated colorectal tumorigenesis but is itself suppressed under highly inflammatory conditions. MAGI3 deficiency activates the STAT3‐CCL2 signaling, thereby promoting TAM‐mediated immunosuppression and inflammation‐associated colorectal tumor progression ...
Yumeng Yang, Zhigang Bai, Haibo Wang, Yu Guo, Yan Zhang, Meihan Hu, Shuaikang Fan, Ran Song, Tongmei Zhang, Mengqi Deng, Xiaomei Yang, Zhongtao Zhang, Junqi He   +12 more
wiley   +1 more source

A tribal‐scale phylogenomic perspective on ancestry and major lineages of the allotetraploid Hawaiian silversword alliance (Madieae, Compositae)

American Journal of Botany, EarlyView.
Abstract Premise Disentangling the ancestry of insular plant lineages is important for resolving their evolutionary histories but often complicated by polyploidy, an overrepresented condition in remote island floras. We used a phylogenomic approach to study the origin of subgenomes of the tetraploid Hawaiian silversword alliance and advance ...
Bruce G. Baldwin, Susan Fawcett, Andrew Kostic, Bridget L. Wessa, William A. Freyman   +4 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Viral Chromosome Conformation Capture (V3C) Assays for Identifying Trans-interaction Sites between Lytic Viruses and the Cellular Genome. [PDF]

Bio Protoc, 2019
Majumder K, Boftsi M, Pintel DJ.
europepmc   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source