Results 91 to 100 of about 1,639,589 (408)

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +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   +3 more sources

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

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  

BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer’s disease [PDF]

, 2016
The brain-derived neurotrophic factor ( BDNF ) Val66Met polymorphism is implicated in synaptic excitation and neuronal integrity, and has previously been shown to moderate amyloid-β-related memory decline and hippocampal atrophy in preclinical sporadic ...
Allegri, Ricardo, Bateman, Randall J., Benzinger, Tammie L. S., Chhatwal, Jasmeer, Cruchaga, Carlos, Fagan, Anne M., Farlow, Martin R., Goate, Alison, Graff-Radford, Neill R., Hassenstab, Jason, Holtzman, David M., Laske, Christoph, Levin, Johannes, Lim, Yen Ying, Maruff, Paul, Masters, Colin L., McDade, Eric, Morris, John C., Ringman, John M., Rossor, Martin N., Salloway, Stephen, Schofield, Peter R., Snyder, Peter J.   +22 more
core   +2 more sources

Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.

Journal of the American Society of Nephrology, 2015
The rate of renal disease progression varies widely among patients with autosomal dominant polycystic kidney disease (ADPKD), necessitating optimal patient selection for enrollment into clinical trials.
M. Irazabal, L. Rangel, E. Bergstralh, Sara L. Osborn, Amber J Harmon, J. L. Sundsbak, K. Bae, A. Chapman, J. Grantham, M. Mrug, M. Hogan, Z. El-Zoghby, P. Harris, B. Erickson, B. King, V. Torres   +15 more
semanticscholar   +1 more source

Semi-Automatic Segmentation of Autosomal Dominant Polycystic Kidneys using Random Forests [PDF]

arXiv, 2015
This paper presents a method for 3D segmentation of kidneys from patients with autosomal dominant polycystic kidney disease (ADPKD) and severe renal insufficiency, using computed tomography (CT) data. ADPKD severely alters the shape of the kidneys due to non-uniform formation of cysts.
arxiv  

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family [PDF]

, 2009
Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence
Chan, AYW, Chan, KY, Ching, CK, Lam, CW, Mak, CM   +4 more
core  

Computation of Total Kidney Volume from CT images in Autosomal Dominant Polycystic Kidney Disease using Multi-Task 3D Convolutional Neural Networks [PDF]

arXiv, 2018
Autosomal Dominant Polycystic Kidney Disease (ADPKD) characterized by progressive growth of renal cysts is the most prevalent and potentially lethal monogenic renal disease, affecting one in every 500-100 people. Total Kidney Volume (TKV) and its growth computed from Computed Tomography images has been accepted as an essential prognostic marker for ...
arxiv