Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1931887 | PMC |
Publication Analysis
Top Keywords
Similar Publications
Enamel renal gingival syndrome in Indian scenario: A systematic review.
Med J Armed Forces India
October 2024
Commandant, Army Dental Centre (Research & Referral), New Delhi, India.
Background: Enamel renal gingival syndrome (ERS) is a genetic disorder caused by mutations in the FAM20A gene located on long arm of chromosome 17. It is characterized by presence of intra-oral features like hypoplastic type of amelogenesis imperfecta, fibromatosis of gingiva and nephrocalcinosis in addition to delayed eruption. The oral phenotype is evident in childhood, whereas the renal involvement is clinically silent at this age and requires further investigation for detection at later age.
View Article and Find Full Text PDFSociodemographic Factors and Awareness of Consanguineous Marriages in Rural Northern Karnataka: A Cross-Sectional Study.
Cureus
December 2024
Community Medicine, Shri. B. M. Patil Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, IND.
Background Consanguineous marriages, defined as unions between closely related individuals, are influenced by a complex interplay of cultural, social, economic, religious, and demographic factors. These marriages are prevalent among communities such as Hindus, Muslims, Jews, Buddhists, Christians, and Parsis in Southern and Western Asia, with significant regional variations within India. There is a lack of appropriate decision-making among women in consanguineous unions, particularly those with a low level of educational attainment, which leads to an increase in the prevalence of consanguineous marriages.
View Article and Find Full Text PDFGenotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Sci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
View Article and Find Full Text PDFGenetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Mol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFPhenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Neurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!