Results 141 to 150 of about 5,172,195 (247)

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions. [PDF]

J Pers Med
Dhivagaran T, Butt FR, Grover K, Devgan K, Sachdeva K, Dhivagaran V, Abid F, Tao BK, Balas M, Dimopoulos I, Bhatti A.   +10 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations. [PDF]

BMC Ophthalmol
Taha I, Huraibat K, Al-Labadi L.
europepmc   +1 more source

Establishment and characterization of mouse lymph node fibrosis models

Animal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Schematic illustration of four strategies for establishing mouse lymph node (LN) fibrosis models. The study further compares their fibrotic remodeling patterns and immune alterations. Abstract Background Lymph node (LN) fibrosis occurs in a variety of pathological conditions, including HIV infection, obesity, cancer, and
Yaru Niu, Xu Guan, Jian Ma, Xin Zhang, Yihang Shi, Jinzhu Zhang, Leiqiong Gao, Wei Chen, Xishan Wang   +8 more
wiley   +1 more source

Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions. [PDF]

J Pers Med
Kang S, Lam BL, Lee W, Berrocal AM, Gregori NZ, Mendoza-Santiesteban CE, Sengillo JD.   +6 more
europepmc   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Retina-specific long non-coding RNAs associated with inherited retinal disease genes. [PDF]

Cell Mol Life Sci
Delanote E, Ruiz-Ceja KA, Dueñas Rey A, Capasso D, Bouckaert M, Sofia M, Di Guida M, Failli M, Soriano VL, Lenaerts H, Lemeire K, Dorgau B, Verwilt J, De Keulenaer S, Van Nieuwerburgh F, Huizing M, Glorieux S, Volders PJ, D'haene E, De Baere E, Lako M, Remaut K, Sorrentino NC, Mestdagh P, di Bernardo D, Lefever S, Coppieters F, Banfi S.   +27 more
europepmc   +1 more source

Chrysin attenuates diabetes‐induced retinal injury by inhibiting microglial GBP3/NLRP3/GSDMD‐mediated pyroptosis

Animal Models and Experimental Medicine, EarlyView.
We investigated the therapeutic potential and mechanism of chrysin in experimental diabetic retinal disease. Using a streptozotocin (STZ)‐induced diabetic mouse model and high‐glucose‐stimulated BV2 microglia, we revealed chrysin‐responsive pyroptosis‐associated signatures and identified GBP3 as a regulated node.
Qun Liu, Song‐min Wang, Xuan Chen, Yi‐rao You, Chen‐jiao Guo, Chang‐qin Xie, Lu‐lu Wang, Qi Liu, Lan Zhang, Jun‐tao Yang   +9 more
wiley   +1 more source

Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study. [PDF]

Front Med (Lausanne)
Gu VY, Guo J, Zhang X, Zhang W, Liu H, Xiao H, Jiao D, Yin J, Tian T, Zhao P.   +9 more
europepmc   +1 more source