Results 111 to 120 of about 314,830 (333)

Role of sex in immune response and epigenetic mechanisms

Epigenetics & Chromatin
The functioning of the human immune system is highly dependent on the sex of the individual, which comes by virtue of sex chromosomes and hormonal differences. Epigenetic mechanisms such as X chromosome inactivation, mosaicism, skewing, and dimorphism in
Sombodhi Bhattacharya, Debasmita Sadhukhan, Radha Saraswathy   +2 more
doaj   +1 more source

The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease

Frontiers in Genetics, 2019
The role of chromosome Y in chronic kidney disease (CKD) remains unknown, as chromosome Y is typically excluded from genetic analysis in CKD. The complex, sex-specific presentation of CKD could be influenced by chromosome Y genetic variation, but there ...
Kerry Anderson, Marisa Cañadas-Garre, Robyn Chambers, Alexander Peter Maxwell, Alexander Peter Maxwell, Amy Jayne McKnight   +5 more
doaj   +1 more source

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Akihiro Yachie, Yo Niida
core   +1 more source

Single‐Cell Atlas Reveals Tumorigenic Profiles and Immune Dynamics of Adrenal Incidentalomas

Advanced Science, EarlyView.
Single‐cell RNA sequencing reveals cellular heterogeneity in adrenal incidentalomas, identifying distinct tumor cell populations. Clusterin is recognized as a biomarker for adrenocortical tumors, correlating with established markers. MYCN‐positive clusters in pheochromocytomas indicated poorer survival.
Meng Wang, Guangmin Zheng, Xiaoyong Hu, Feng Tian, Tuo Li, Zheng Zhang, Kan Gong, Shiwei Chen, Lin Yuan, Yu Qi, Lin Li, Daofu Cheng, Liu Liu, Fuqiang Liu, Yujing Sun, Xiangdong Fang, Ruxing Zhao, Bing Liu, Chao Zhang   +18 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Epigenetics and autoimmune diseases: The X chromosome-nucleolus nexus

Frontiers in Genetics, 2015
Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents ...
Wesley H. Brooks, Yves eRenaudineau, Yves eRenaudineau   +2 more
doaj   +1 more source

The Nuclear Localization of ACLY Guards Early Embryo Development Through Recruiting P300 and HAT1 to Promote Histone Acetylation and Transcription

Advanced Science, EarlyView.
ACLY is vital for early embryo development. IGF‐1 activates AKT to phosphorylate ACLY, driving its nuclear localization and recruitment of HATs (P300/HAT1), boosting acetyl‐CoA production and histone acetylation for transcriptional activation. Conversely, ACLY deficiency (via knockdown, knockout, or AKT inhibition) reduces nuclear acetyl‐CoA, disrupts ...
Yerong Ma, Yingyi Zhang, Weijie Yang, Xiaomei Tong, Siya Liu, Yan Zhou, Mengjia Qiu, Huifang Jiang, Zhanhong Hu, Peipei Ren, Yan Rong, Mengru Lai, Jiamin Jin, Fei Huang, Liujian Ouyang, Feng Zhou, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +18 more
wiley   +1 more source

Myoclonic Absence Seizures and Chromosome Anomalies

Pediatric Neurology Briefs, 1998
The relation between myoclonic absence-like seizures (MAS) and underlying chromosome disorders was evaluated in 14 patients at three centers in Italy.
J Gordon Millichap
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Single‐Cell Analysis Clarifies Pathological Heterogeneity in Tenosynovial Giant Cell Tumor and Identifies Biomarkers for Predicting Disease Recurrence

Advanced Science, EarlyView.
MP3 tumor cells, a specific subpopulation of tumor cells in D‐TGCT, regulated the differentiation of CD34+ Fbs into MMP3+ Fbs and APOE+ Fbs through COL6A3 − (ITGAV + ITGB8) interaction. APOE+ Fbs activated IL‐1B+CCL20+ Mφs through the CXCL12/CXCR4 axis. IL‐1B+CCL20+ Mφs and MMP3+ Fbs participated in the local invasion of D‐TGCT.
Yubin Xie, Chen Chen, Fei Wu, Yiman Peng, Jing Su, Yang Zhao, Hongjie Huang, Zhong Alan Li, Yin Pei, Wencui Li, Yi He, Tianchen Xue, Chenxi Cao, Sui Peng, Xin Zhang, Weidong Song   +15 more
wiley   +1 more source