Results 61 to 70 of about 2,671 (159)

Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. [PDF]

PLoS ONE, 2014
Calpain-3 deficiency causes oxidative and nitrosative stress-induced damage in skeletal muscle of LGMD2A patients, but mitochondrial respiratory chain function and anti-oxidant levels have not been systematically assessed in this clinical population ...
Mats I Nilsson, Lauren G Macneil, Yu Kitaoka, Fatimah Alqarni, Rahul Suri, Mahmood Akhtar, Maria E Haikalis, Pavneet Dhaliwal, Munim Saeed, Mark A Tarnopolsky   +9 more
doaj   +1 more source

Expanding African contributions to ClinVar through genetic counselor‐led variant curation

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai, Nolene Ramsunder, Tarin Europa, Jeannine Heckmann, Melissa Nel   +4 more
wiley   +1 more source

A Case of Limb Girdle Muscular Dystrophy Type 2A from India: Copy Number Variation Analysis using Targeted Amplicon Sequencing [PDF]

Journal of Clinical and Diagnostic Research, 2019
Limb Girdle Muscular Dystrophy-Type 2A (LGMD-2A) is an autosomal recessive disease caused due to mutation in the Calpain-3 (CAPN3) gene, leading to partial or total loss of protein.
Arpan D Bhatt, Krati Shah, Apurva Puvar, Chaitanya G Joshi, Madhvi Joshi   +4 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Genetic characterization of Limb Girdle Muscular Dystrophies and Pompe Disease in a large Argentine cohort

Neurology Perspectives, 2022
Introduction: The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles.
M. Schiava, C. Marchesoni, M.L. García de Rosa, N. Estrada, L.L. Cejas, A. Pardal, L. Pirra, L. Repetto, A. Torres, A. Dubrovsky, R. Reisin   +10 more
doaj   +1 more source

Differential Gene Expression in Human Hippocampus With Aging

Aging Cell, Volume 25, Issue 4, April 2026.
2 complementary analysis from a transcriptome study in human hippocampal samples of different ages revealed a set of genes differentially expressed in aged individuals linked to inflammation and immune system pathways, DNA repair (RAD23) or neural activity.
Ander Saenz‐Antoñanzas, Manuel Moreno‐Valladares, Maider Muñoz‐Culla, Sara Cruces‐Salguero, Jon Landa, Ainhoa Alberro, Jhonatan Vergara‐Arce, Marta Arroyo‐Izaga, David Otaegui, Ander Matheu   +9 more
wiley   +1 more source

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

Global Medical Genetics, 2022
Calpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are ...
Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini   +16 more
doaj   +1 more source

Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Annals of Indian Academy of Neurology, 2016
Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known.
Satish V Khadilkar, Chetan R Chaudhari, Rashna S Dastur, Pradnya S Gaitonde, Jayendra G Yadav   +4 more
openaire   +3 more sources

Single‐cell analysis reveals neuroprotective histone deacetylase inhibitor pathways

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION Alzheimer's disease (AD) involves β‐amyloid (Aβ) accumulation, tau pathology, and neuroinflammation, driving cognitive decline. Despite extensive research, disease‐modifying therapies remain elusive. We integrated single‐cell RNA sequencing (scRNA‐seq), spatial transcriptomics, and in vitro validation to identify repurposable ...
Madeline Peyton, Nur Jury‐Garfe, Jiahui Liu, Caleb Beimfohr, Chitra Sunil, Steven Brooks, Pengyue Zhang, Sean D. McCabe, Timothy I. Richardson, Kun Huang, Cristian A. Lasagna‐Reeves, Jie Zhang, Travis S. Johnson   +12 more
wiley   +1 more source

KERAGAMAN GEN CALPASTATIN, CALPAIN 3 DAN MYOSTATIN PADA DOMBA DI UP3 JONGGOL

Jurnal Ilmu Pertanian Indonesia, 2012
The aim of this study was to identify the genetic polymorphisms of calpastatin (CAST), calpain 3 (CAPN3) and myostatin (MSTN) on local sheep at Jonggol Animal Science Teaching and Research Unit (JASTRU). A total number of 294 blood samples were collected
Cece Sumantri, Jakaria, Mohamad Yamin, Henny Nuraini, Bramada Winiar Putra, Eryk Andreas   +5 more
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