Results 71 to 80 of about 473,993 (259)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Two familial cases of Hb Tyne confirm instability as cause of low expression

Thalassemia Reports, 2017
We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology.
Beverley M. Pullon, Stephen O. Brennan
doaj   +1 more source

Heterozygous/Homozygous domeMESOGFP.

Heterozygous cross of UAS TraF; + x domeMESOGFP and homozygous cross of UAS TraF;domeMESOGFP x domeMESOGFP, separated by sex. (A) Raw total nuclei count of heterozygous females(n = 17) and homozygous females(n = 16) are shown to have no significant ...
Alexandra Dvoskin (24376135), Juliet R. Girard (24376147), Michael Allara (24376141), Guy Tanentzapf (230672), Kevin Y. L. Ho (24376138), Nicola Janz (24376144), Elizabeth Rideout (24207793)   +6 more
core   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

Frontiers in Genetics, 2023
Juyi Li, Tao Luo, Xiufang Wang, Mengjie Wang, Tao Zheng, Xiao Dang, Aiping Deng, Youzhi Zhang, Sheng Ding, Ping Jing, Lin Zhu   +10 more
doaj   +1 more source

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report

Frontiers in Endocrinology
Glial cells missing transcription factor 2 (GCM2) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function ...
Ayano Onishi, Yoshinari Obata, Tomoaki Hayakawa, Makoto Fujiwara, Yasuhisa Ohata, Yuri Tamura, Satoshi Kawata, Kosuke Mukai, Kazuyuki Miyashita, Kenichi Yamamoto, Kenichi Yamamoto, Kenichi Yamamoto, Takuo Kubota, Atsunori Fukuhara, Atsunori Fukuhara, Iichiro Shimomura   +15 more
doaj   +1 more source

Variable and Severe Phenotypic Expression of the “Lebanese Allele” in Two Sisters with Familial Hypercholesterolemia

Vascular Health and Risk Management, 2021
Johnny Chahine, Sarah Kreykes, Jeremy R Van’t Hof, Daniel Duprez, Prabhjot Nijjar Cardiovascular Division, Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USACorrespondence: Prabhjot NijjarUniversity of Minnesota Medical ...
Chahine J, Kreykes S, Van't Hof JR, Duprez D, Nijjar P   +4 more
doaj  

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder (Letter)

, 2017
We read with great interest that Gan-Or et al. (2017) have observed an association (albeit not reaching statistical significance) of the heterozygous PINK1 p.G411S mutation and rapid eye movement sleep behaviour disorder [RBD; effect size odds ratio (OR)
Fiesel, Fabienne C, Puschmann, Andreas, Jimenez-Ferrer, Itzia, Heckman, Michael G, Hansson, Oskar, Hou, Xu, Hudec, Roman, Ogaki, Kotaro, Mellick, George D, Caulfield, Thomas R, James, Elle D, Ando, Maya, Truban, Dominika, Swanberg, Maria, et al.   +14 more
core   +1 more source

Advancing Human Skin Equivalents: The Crucial Role of Neurovascular Integration

Advanced Healthcare Materials, EarlyView.
This review discusses the importance of integrating vascular and peripheral nerve systems into human skin equivalents (HSEs) to better recapitulate native skin physiology. Recent advances in vascularized, innervated, and neurovascularized HSEs are highlighted, together with emerging bioengineering strategies, current challenges, and future ...
Hao Wu, Lorenzo Moroni, Nicolas Lebonvallet, Vincent Flacher, Paul Wieringa   +4 more
wiley   +1 more source