Results 111 to 120 of about 58,343 (309)

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

BMC Medical Genetics, 2005
Background Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5–10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality,
Reddy Kavita S
doaj   +1 more source

Porokeratosis and Chromosomal Abnormalities [PDF]

Dermatologica, 2009
G, Orecchia, L, Perfetti, S, Scappaticci
openaire   +2 more sources

Expanded Hepatic Progenitor Cells Featured with Aggregation of α‐Synuclein Contribute to Pathologic Bile Duct Regeneration in Biliary Atresia

Advanced Science, EarlyView.
Expanded NCAM1+EpCAM+ hepatic progenitor cells in biliary atresia are characterized by aggregation of α‐synuclein. This pathological protein potentiates cellular susceptibility to GSH‐dependent redox dyshomeostasis, induces unstable biliary cell fate specification, and subsequently drives aberrant biliary regeneration.
Hua Xie, Mengyan Zhu, Zhongxian Zhu, Jiaqi Tang, Ruyi Zhang, Zequan Ding, Junzhi Li, Zhongluan Wu, Paul Kwong Hang Tam, Qianghu Wang, Vincent Chi Hang Lui, Yankai Xia, Weibing Tang   +12 more
wiley   +1 more source

Mechanical Activation of Piezo1 Drives Osteoarthritis Through Kdm5c‐Mediated Epigenetic Silencing

Advanced Science, EarlyView.
Excessive mechanical stress activates Piezo1, triggering Ca2+‐dependent cytoskeletal forces that deform the nucleus and reduce H3K4me3. Kdm5c demethylates H3K4me3 at Col2a1 and Runx3 promoters. Kdm5c knockout rescues degradation. Repurposed telmisartan directly inhibits Kdm5c, blocking this axis and showing disease‐modifying efficacy in mouse OA models
Tianyou Kan, Xuran Li, Han Wang, Lin Sun, Yao Wang, Jiangdong Wu, Junqi Cui, Yiqi Yang, Kai Yuan, Linyang Chu, Liao Wang, Hanjun Li, Mengning Yan, Zhifeng Yu   +13 more
wiley   +1 more source

A new recurring chromosome 13 abnormality in two older patients with de novo acute myeloid leukemia: An Indian experience [PDF]

, 2010
We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint ...
Brahmbhatt, M.M., Gajjar, S.B., Trivedi, P J., Patel, B P., Shukla, S N., Shukla, S.N., Dalal, E.N., Patel, P S., Bakshi, S R., Brahmbhatt, M M., Shah, P M., Patel, B.P., Dalal, E N., Patel, P.S., Trivedi, P.J., Bakshi, S.R., Gajjar, S B., Shah, P.M.   +17 more
core   +2 more sources

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +1 more source

A non-random chromosome abnormality found in precursor-B lineage acute lymphoblastic leukaemia: dic(9;20)(p1?3;q11).

, 1995
A comparison of cytogenetical data on acute lymphoblastic leukaemia studied at four large European centres has revealed a non-random dicentric chromosome abnormality: dic(9;20) (p1?3;q11) in 10 patients, nine of whom were children.
Harbott, J., Hählen, K., Veerman, A.J., Behrendt, H., Bellomo, M.J., Kroes, W., Mühlematter, D., Hagemeijer, A., Slater, R., Smit, E.   +9 more
core  

MIS12 Is Required for Kinetochore‐Microtubule Attachment in Oocyte Meiosis

Advanced Science, EarlyView.
A model depicting the role of MIS12 in K‐MT attachment during oocyte meiosis. The presence of MIS12 stabilizes bipolar K‐MT attachments by maintaining the function of NDC80 and its interaction with TUBB. This, in turn, promotes KNL1 assembly and subsequent SAC protein recruitment to kinetochores.
Jian Li, Chun‐Hui Zhang, Yong Wang, Cheng‐Yuan Li, Da‐Rong Wen, Xi Xia, Liang Zhou, Wei‐Ping Qian, Qing‐Yuan Sun, Chang‐Zhong Li   +9 more
wiley   +1 more source

Pericentrosomal Redistribution of the Endoplasmic Reticulum Ensures Organelle Symmetric Inheritance and Mitotic Progression

Advanced Science, EarlyView.
Upon mitotic entry, RTN4 relocalizes to the pericentrosomal region, forming a more tubular ER network around centrosomes. CDK1‐mediated phosphorylation of RTN4 increases its interaction with Rab11 GTPase, facilitating dynein‐dependent transport of RTN4 to the pericentrosomal region.
Xiangyu Xu, Yalin Liu, Rongyi Wang, Wenwen Xu, Hao Shi, Ning Huang, Junlin Teng, Jin Meng, Pengli Zheng, Jianguo Chen   +9 more
wiley   +1 more source

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source