Results 71 to 80 of about 308,350 (333)

Autosomal Dominant Partial Epilepsy with Auditory Features

Pediatric Neurology Briefs, 2009
Auditory and language processing in 17 subjects with autosomal dominant partial epilepsy with auditory features (ADPEAF) was investigated by MRI, fMRI, and MEG and compared to 26 controls, in a study at Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

A Human Kidney Tubuloid Model of Repeated Cisplatin‐Induced Cellular Senescence and Fibrosis for Drug Screening

Advanced Healthcare Materials, EarlyView.
Replicating aging and senescence‐related pathophysiological responses in kidney organoids remains a significant challenge. Human adult renal tubular organoid, tubuloids, are successfully developed recapitulating cellular senescence that is the central pathophysiological mechanism of chronic kidney disease (CKD).
Yuki Nakao, Makiko Mori, Yuta Sekiguchi, Iori Morita, Ryota Shindoh, Shintaro Mandai, Tamami Fujiki, Hiroaki Kikuchi, Fumiaki Ando, Koichiro Susa, Takayasu Mori, Ayumi Suzuki, Yuji Nashimoto, Hirokazu Kaji, Yuma Waseda, Soichiro Yoshida, Yasuhisa Fujii, Eisei Sohara, Shinichi Uchida, Kensuke Miyake, Yutaro Mori   +20 more
wiley   +1 more source

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

Advanced Science, EarlyView.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng   +15 more
wiley   +1 more source

Autosomal dominant multicentric infantile myofibromatosis: A case report

Pediatric Hematology Oncology Journal
Background: Infantile myofibromatosis (IM) is a rare disorder of benign fibrous tumors, where severity and prognosis depend on the location of tumors, particularly if visceral organs are affected. Most cases of IM are sporadic.
Jessica Justus Kurian, Megan R. Lyle
doaj   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

Mettl3‐Mediated m6A Modification Represents a Novel Therapeutic Target for FSGS

Advanced Science, EarlyView.
This study explores the roles of Mettl3‐induced N6‐methyladenosine (m6A) modifications in Focal segmental glomerulosclerosis (FSGS). The findings reveal that inhibition of Mettl3 results in podocyte injury by modulating the TJP1CDC42 pathway. Moreover, Administration of N6‐methyladenosine attenuates the FSGS phenotype in WT mice induced by Adriamycin ...
Fubin Zhu, Hongzhi Li, Xiang Li, Chunxiu Du, Ting Wang, Xuling Zhou, Xiaobei Xie, Yunxia Shao, Yingzhi Huang, Yanling Hu, Xinxin Guo, Bin Zhu, Shanshan Yu, Xiaoyan Zhang, Binghai Zhao   +14 more
wiley   +1 more source

Autosomal-dominant osteopetrosis: An incidental finding

Indian Journal of Dental Research, 2010
Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. Osteopetrotic conditions vary greatly in their presentation and severity, from just as an incidental finding on radiographs to causing life ...
Rajathi Maria, Austin Ravi, Mathew Philips, Bharathi C, Srivastava Kumar   +4 more
doaj  

Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia

Advanced Science, EarlyView.
This study clarifies the genetic patterns of paternal lineages across East Asia and Mainland Southeast Asia. Han populations are relatively homogeneous, whereas southern ethnolinguistic minorities display regional structures. Shared Y‐chromosome lineages indicate Neolithic expansions and extensive north‐south gene flow, supporting demic diffusion ...
Yunhui Liu, Lintao Luo, Yutong Jiang, Minzhu Zhao, Ting Yang, Zhiyong Wang, Lisiteng Luo, Yuhang Feng, Zihao Zhu, Yuzhu Wang, Limei Zhang, Bofeng Zhu, Chao Liu, Renkuan Tang, Mengge Wang, Guanglin He   +15 more
wiley   +1 more source

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +1 more source