Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objectives: Obstructive sleep apnea (OSA) is a common disorder influenced by genetic and environmental factors. Mutations of gene have been implicated which could cause rare syndromes presenting OSA. This study aims to investigate some rare mutations of in Chinese Han individuals with OSA.
Patients And Methods: Three hundred and seventy-five patients with OSA and one hundred and nine control individuals underwent polysomnography. A targeted sequencing experiment was taken in 100 patients with moderate-to-severe OSA, and genotyping was taken in 157 moderate-to-severe OSA and 100 control individuals. The effect of mutations was validated by the luciferase reporter assay.
Results: One rare missense mutation () and two mutations (c.-88C>T; c.-781C>G) in 5'-untranslated region (UTR) of were identified. The rare mutation (c.-781C>G) in 5'-UTR that was identified in several patients presenting more severe clinical manifestations affects expression of . Our results revealed three rare mutations of in patients with OSA in Chinese Hanindividuals.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815587 | PMC |
| http://dx.doi.org/10.1155/2019/5907361 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.
Front Pediatr
August 2025
Pediatrics Department, Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan, Russia.
Background: Acid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations. Arnold-Chiari malformation is a structural defect of the cerebellum and brainstem with distinct pathogenesis and clinical course. To our knowledge, the coexistence of these two conditions has not been previously reported.
View Article and Find Full Text PDFReciprocated tachycardias in cardiac laminopathy: a clinical case report.
Eur Heart J Case Rep
September 2025
Feinberg School of Medicine, Northwestern University, 303E Chicago Ave, Ward 1-003, Chicago, IL 60611, USA.
Background: Cardiac laminopathies, associated with mutations in the LMNA gene, are a rare inherited disorder characterized by a broad range of clinical manifestations. There are currently no data on the association between supraventricular re-entrant tachycardias and LMNA-related cardiomyopathy.
Case Summary: A 26-year-old male presented with either wide-QRS tachycardia with a left bundle branch block (LBBB) pattern or narrow QRS tachycardia, as well as a history of palpitations since age 15.
Successful remission induction therapy with azacitidine and venetoclax for a treatment-naive elderly patient with ETP/myeloid mixed-phenotype acute leukemia: a case report.
Front Oncol
August 2025
Department Hematopathology, Shenzhen Hospital of Southern Medical University, Shenzhen, China.
Background: Mixed-phenotype acute leukemia (MPAL) is a rare acute leukemia for which data are currently not available to guide therapy. It has a poor outcome, particularly in elderly patients.
Case Presentation: We report the successful use of venetoclax/azacitidine as treatment for a treatment-naive elderly patient with early T-cell precursor (ETP)/myeloid MPAL.
A compilation of 13 patients with metastatic colorectal cancer and concomitant and family mutations.
Front Oncol
August 2025
Department of Hematology and Oncology, Wake Forest University School of Medicine, Winston-Salem, NC, United States.
Introduction: Metastatic colorectal cancer (mCRC) exhibits significant heterogeneity in molecular profiles, influencing treatment response and patient outcomes. Mutations in v-raf murine sarcoma viral oncogene homolog B1 () and rat sarcoma () family genes are commonly observed in mCRC. Though originally thought to be mutually exclusive, recent data have shown that patients may present with concomitant and mutations, posing unique challenges and implications for clinical management.
View Article and Find Full Text PDFCongenital dyserythropoietic anemia type III (CDA III) is an extremely rare inherited disorder characterized by ineffective erythropoiesis, multinucleated erythroblasts in the bone marrow, and variable clinical gravity. We report the case of a 6-year-old boy, presenting with abdominal distension, failure to thrive, dark urine, intermittent itching, and recurrent infections. Physical examination revealed pallor, hepatomegaly, and splenomegaly.
View Article and Find Full Text PDF