Results 81 to 90 of about 19,235 (265)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report

BMC Medical Genetics, 2019
Background Consanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive disorders. Thus, homozygous mutations in monogenic obesity genes may be a more frequent cause of childhood
Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul, Torben Hansen   +11 more
doaj   +1 more source

Factors XWenatchee I and II: compound heterozygosity involving two variant proteins

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
Variant factor X in an individual with a mild bleeding tendency was suspected based on deficient procoagulant activity (10-20% of normal) and antigen (30-35% of normal) levels of plasma factor X. Heteroduplex analysis of factor X gene exons indicated heterozygosity for mutations in both exons 6 and 4, confirmed by direct sequencing of the amplified ...
Kim, Deog J, Thompson, Arthur R, Nash, Donald R, James, Harold L   +3 more
openaire   +2 more sources

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

A Microfluidic Multiplex Sorter for Strain Development

Advanced Materials Technologies, Volume 10, Issue 6, March 18, 2025.
A new multiplex method for high‐throughput screening of yeast strains based on glucoamylase production is presented. Droplets containing single mutant yeast cells are incubated for enzyme production. A sorting platform divides mutants by their high‐ and mid‐activity levels.
Chiara Leal‐Alves, Sebastien Dumont, Zhiyang Deng, Sarah Alkhaldi, Ziuwin Leung, Michelle Oeser, Steve C. C. Shih   +6 more
wiley   +1 more source

CD207‐Positive Dendritic Cells Promote Emphysema Through CD8+ T Cell Pathway in Chronic Obstructive Pulmonary Disease

Advanced Science, EarlyView.
CD207+ dendritic cells (DCs) drive emphysema by promoting CD8⁺ T cell cytotoxicity via Birbeck granule‐dependent MHC‐I antigen presentation. This DC subset is expanded by cigarette smoke‐induced oxidative stress, which triggers granulocyte‐macrophage colony‐stimulating factor (GM‐CSF) release from airway epithelium.
Shurui Xuan, Yunhui Wu, Feng Liu, Heng Fu, Yaqi Meng, Yingwei Ou, Xijing Yuan, Ian M. Adcock, Man Jia, Xiaoning Zeng, Xin Yao   +10 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

RIG‐I Mediated Neuron‐Specific IFN Type 1 Signaling in FUS‐ALS Induces Neurodegeneration and Offers New Biomarker‐Driven Individualized Treatment Options for (FUS‐)ALS

Advanced Science, EarlyView.
Using iPSC‐derived motoneurons and postmortem tissue from FUS‐ALS patients, it is demonstrated that increased mitochondrial transcription leads to elevated cytosolic double‐stranded RNA (dsRNA) levels. This aberrant accumulation activates a RIG‐I–dependent innate immune response leading to neurodegeneration, which is amenable for FDA‐ and EMA‐approved ...
Marcel Naumann, Theresa M. Wierschin, Stefanie Kretschmer, Banaja P. Dash, Aaron Held, Andrea Salzinger, Kevin Peikert, Anže Karlek, Hannes Glaß, Dajana Großmann, René Günther, Susanne Petri, Annekathrin Rödiger, David Brenner, Francisco Pan‐Montojo, Eleonora Aronica, Markus Kipp, Vitaly Zimyanin, Jared Sterneckert, Torsten Grehl, Noah D. Seebacher, Tobias M. Böckers, Alberto Catanese, Brian J. Wainger, Patrick Oeckl, Min Ae Lee‐Kirsch, Andreas Hermann   +26 more
wiley   +1 more source

Compound heterozygous β+ β0 mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study

Molecular Genetics and Metabolism Reports, 2016
β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions).
Spandan Chaudhary, Dipali Dhawan, Prashanth G. Bagali, Pooja S.Chaudhary, Abhinav Chaudhary, Sanjay Singh, Srinivas Vudathala   +6 more
doaj   +1 more source