Results 51 to 60 of about 70,597 (264)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Submicroscopic chromosomal imbalances contribute to early abortion

Molecular Cytogenetics, 2018
Background Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear.
Haibo Li, Minjuan Liu, Min Xie, Qin Zhang, Jingjing Xiang, Chengying Duan, Yang Ding, Yinghua Liu, Jun Mao, Ting Wang, Hong Li   +10 more
doaj   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Identification of a genomic reservoir for new TRIM genes in primate genomes. [PDF]

PLoS Genetics, 2011
Tripartite Motif (TRIM) ubiquitin ligases act in the innate immune response against viruses. One of the best characterized members of this family, TRIM5α, serves as a potent retroviral restriction factor with activity against HIV.
Kyudong Han, Dianne I Lou, Sara L Sawyer
doaj   +1 more source

Unanswered questions in the regulation and function of the duplicated α7 nicotinic receptor gene CHRFAM7A

Pharmacological Research, 2023
The α7 nicotinic receptor (α7 nAChR) is an important entry point for Ca2+ into the cell, which has broad and important effects on gene expression and function.
Sherry Leonard, Roberta Benfante
doaj   +1 more source

A Vascularized Microphysiological System Reproducing Endochondral Ossification in Vitro to Study Ewing Sarcoma Proliferation and Migration

Advanced Functional Materials, EarlyView.
A biofabricated 3D in vitro model recapitulating endochondral ossification (ECO) is described, mimicking the steps from condensation to chondrogenesis and hypertrophy, culminating with vascularization of the hypertrophic construct. As a model proof of concept application, Ewing Sarcoma cells are seeded in the model, showing modifications in their ...
Maria Vittoria Colombo, Chiara Arrigoni, Tobias Faehling, Antonietta Verrillo, Viviana Secci, Thomas G. P. Grünewald, Giuseppe Talò, Alexandra Kummer, Jorge Gonzalez, Vincenzo De Rosa, Christian Candrian, Andrea Barbero, Florencia Cidre‐Aranaz, Matteo Moretti   +13 more
wiley   +1 more source

Copper Stress Response of Antibiotic‐Resistant and Copper‐Tolerant Enterococcus faecium and the Antibacterial Efficacy of Functionalized Copper Surfaces

Advanced Materials Interfaces, EarlyView.
This study examines how different laser‐patterned copper and brass surfaces, including copper coatings, affect the survival of vancomycin‐resistant Enterococcus faecium. Using microscopy and genome analysis, the results show that copper tolerance varies between strains and can increase after vancomycin exposure.
Franca Arndt, Katharina Siems, Stella Marie Timofeev, Philippe Baumann, Aisha Saddiqa Ahmed, Daniel Wyn Müller, Frank Mücklich, Aaron Haben, Ralf Kautenburger, Ronja Anton, Christoph Schaudinn, Michael Laue, Oliver Schwengers, Katharina Runzheimer, Rocío Arazo del Pino, Kyriaki Xanthopoulou, Paul G. Higgins, Stefan Leuko, Alessa Lalinka Boschert   +18 more
wiley   +1 more source

Excessive DNA Double‐Strand Breaks–Associated 3D Genome Reorganization Contributes to Neural Tube Defects with Folate Deficiency

Advanced Science, EarlyView.
Neural tube defects (NTDs) are among the most common congenital malformations. However, the underlying etiology and mechanism remain elusive. Here, the role of DNA double‐strand breaks (DSBs) in 3D genome organization within the NTDs with folate deficiency is reported.
Ting Zhang, Lin Lin, Jianting Li, Caihua Li, Shengjun Liang, Xuemei Bai, Fang Wang, Yihua Bao, Dan Guo, Xiaochen Bo, Hao Li, Hebing Chen, Qiu Xie   +12 more
wiley   +1 more source

Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication

The Application of Clinical Genetics, 2016
Alyn D Hatter,1 David C Soler,2,3 Christine Curtis,4 Kevin D Cooper,1,2,3,5 Thomas S McCormick,2,31University Hospitals Case Medical Center, 2Department of Dermatology, 3The Murdough Family Center for Psoriasis, Case Western Reserve University ...
Hatter AD, Soler DC, Curtis C, Cooper KD, McCormick TS   +4 more
doaj  

Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism

Frontiers in Endocrinology
X-linked acrogigantism (X-LAG) is a rare form of pituitary gigantism that is associated with growth hormone (GH) and prolactin-secreting pituitary adenomas/pituitary neuroendocrine tumors (PitNETs) that develop in infancy.
Manuela Caruso, Diego Mazzatenta, Diego Mazzatenta, Sofia Asioli, Sofia Asioli, Giuseppe Costanza, Giampaolo Trivellin, Giampaolo Trivellin, Martin Franke, Dayana Abboud, Julien Hanson, Véronique Raverot, Patrick Pétrossians, Albert Beckers, Marco Cappa, Adrian F. Daly   +15 more
doaj   +1 more source