Results 41 to 50 of about 269,697 (252)

TPI1 Loss Triggers a Metabolite‐Driven Mitochondrial Redox Vulnerability via the SARM1–cADPR–Ca2+ Axis

Advanced Science, EarlyView.
Metabolite‐driven redox stress governs cancer cell senescence. TPI1 deficiency elevates DHAP, initiating SARM1‐dependent cADPR‐Ca2+ release. Mitochondrial ROS surge subsequently induces DNA damage and senescence, offering a conserved therapeutic target in multiple cancers.
Chunyu Liu, Shun Wu, Chuang Wang, Zirui Zhou, Tianwei Cai, Wen Tao, Shidong Zuo, Chi Zhang, Yuhao Dong, Yi Feng, Qingbo Huang, Baojun Wang, Xin Ma, Haoli Ma, Xu Zhang, Yan Huang   +15 more
wiley   +1 more source

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

BMC Medical Genetics, 2008
Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion.
Cheema Abdul, Kakar Naseebullah, Goebel Ingrid, Sajjad Naheed, Kubisch Christian, Ahmad Jamil   +5 more
doaj   +1 more source

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

Molecular Genetics & Genomic Medicine, 2021
Background CABP2‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe.
Inger Norlyk Sheyanth, Allan Thomas Højland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen   +5 more
doaj   +1 more source

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

, 2016
In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down.
Nakaya, Akihiro, Mark Lathrop, Ohtake, Akira, Akihiro Nakaya, Yasushi Sakata, Kohda, Masakazu, Yasushi Okazaki, Akira Ohtake, Murayama, Kei, Okazaki, Yasushi, Lathrop, Mark, Imai, Atsuko, Ott, Jurg, Atsuko Imai, Kei Murayama, Masakazu Kohda, Jurg Ott, Sakata, Yasushi   +17 more
core   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Mucopolysaccharidosis: A rare case from ophthalmology perspective

Journal of Clinical Ophthalmology and Research
The purpose of this article was to report a rare case of mucopolysaccharidosis (MPS) type-I, Hurler–Scheie affecting a 10-year-old boy with a combination of ophthalmological, skeletal, neurological, orodental, and radiological findings.
Santosh Singh Patel, Rajesh Kumar Sahu, Reshu Malhotra, Anju Bhaskar, A. K. Chandrakar   +4 more
doaj   +1 more source

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)

Scientific Reports, 2020
Hereditary spastic paraplegia (HSP) is a heterogeneous inherited disorder that manifests with lower extremity weakness and spasticity. HSP can be inherited by autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have
Jin-Mo Park, Byeonghyeon Lee, Jong-Heun Kim, Seong-Yong Park, Jinhoon Yu, Un-Kyung Kim, Jin-Sung Park   +6 more
doaj   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

Caroli′s syndrome in a post renal transplant patient: Case report and review of the literature

The Saudi Journal of Gastroenterology, 2012
Caroli′s syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and
Muhammad Z Bawany, Osama Alaradi, Ali Nawras   +2 more
doaj   +1 more source

Autosomal recessive polycystic kidney disease: Case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2009
Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death ...
Stevanović Radmila, Glumac Sofija, Trifunović Jovanka, Međo Biljana, Nastasović Tijana, Marković-Lipkovski Jasmina   +5 more
doaj   +1 more source