Results 51 to 60 of about 178,919 (265)

Educational Case: Autosomal Dominant Polycystic Kidney Disease

Academic Pathology, 2020
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ryan L. Frazier BS, Alison R. Huppmann MD   +1 more
doaj   +1 more source

Single‐Cell Dissection of Therapy‐Induced Remodeling Uncovers a Fibroblast‐Driven Immunosuppressive Niche and Targetable Vulnerabilities in Lethal Prostate Cancer

Advanced Science, EarlyView.
Single‐cell longitudinal profiling reveals that androgen‐deprivation therapy induces a DPT+ fibroblast‐complement axis that suppresses macrophage inflammation and drives CD8+ T cell exhaustion in prostate cancer. Concurrently, resistant epithelial subpopulations persist and engage TSPAN1‐ and NRXN1‐mediated programs promoting CRPC and neuroendocrine ...
Yang Chen, Dandan Dong, Jinling Liao, Naikai Liao, Mengqi Liu, Qin Zhang, Siting Chen, Qi Liu, Ying Lu, Tianyu Li, Chunlin Zou, Qiong Song, Qiuyan Wang, Jian Liang, Qiji Xie, Chengyang Li, Mengyun Wang, Jiwen Cheng, Zengnan Mo, Gong‐Hong Wei   +19 more
wiley   +1 more source

TRAPS: An Autosomal Dominant Autoinflammatory Syndrome

Eurasian Journal of Medicine, 2019
Hereditary periodic fever syndromes are genetic autoinflammatory disorders characterized by recurrent attacks of fever and inflammation. These diseases include familial Mediterranean fever (FMF), Tumor necrosis factor receptor-associated periodic ...
Saliha Karatay, Meltem Alkan Melikoğlu
doaj  

Autosomal Dominant Epilepsy Syndrome Linked to 2p11

Pediatric Neurology Briefs, 2002
A newly recognized autosomal dominant epilepsy syndrome with linkage to chromosome 2p11.1-q12.2 is described in an Italian pedigree of 8 patients reported from the Neurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for ...
J Gordon Millichap
doaj   +1 more source

Autosomal dominant pseudoxanthoma elasticum [PDF]

Journal of Medical Genetics, 1974
Two families are described, each with a unique clinical variant of pseudoxanthoma elasticum (PXE) inherited in autosomal dominant fashion. Dominant type I PXE is characterized by a classical flexurally distributed rash, severe and frequent angina of effort, intermittent claudication and hypertension, and a very severe choroidoretinitis, often ...
openaire   +2 more sources

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

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

Gene Correction Enhances Dopaminergic Cell Therapy in a Nonhuman Primate Model of Parkinson's Disease

Advanced Science, EarlyView.
LRRK2‐mutant induced pluripotent stem cells (iPSCs) were derived from a patient with Parkinson's disease (PD). Using CRISPR/Cas9–mediated gene editing, the pathogenic LRRK2 mutations were precisely corrected, and isogenic dopaminergic neural progenitor cells (DA‐NPCs) were subsequently generated.
Qing Yan, Chongchong Xu, Jiangmei Gao, Pu Wang, Qingling Wu, Ying Jin, Binyan Lu, Mu Li, Mingting Shao, Bihai Li, Zhenghui Su, Yijng Zhang, Jianhuan Chen, Haojie An, Mengyao Huang, Xiaoji Zhuang, Yuhui Shen, Fenglin Wang, Nana Xu, Yiyan Liu, Lei Tang, Xiuling Zhong, Minyan Zhong, Jiecong Chen, Zhenhuang Wang, Xingrong Luo, Sheng Liu, RuiFeng Liu, Ling Zhang, Junhua Rao   +29 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  

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