4.5 Article

A novel homozygous splice site variant in the CLCN7 causes osteopetrosis

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Pediatrics

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Majid Alfadhel et al.

Summary: This study is the largest cohort of leukodystrophy patients from Saudi Arabia, with 83 children from 61 families recruited. The male-to-female ratio was 1.5:1, and a consanguinity rate of 58.5% was observed. The most common leukodystrophy was metachromatic leukodystrophy (MLD).

FRONTIERS IN PEDIATRICS (2021)

Article Genetics & Heredity

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Majid Alfadhel et al.

Summary: Ciliopathies are a heterogeneous group of disorders caused by mutations in ciliary proteins, with sequence variations in these genes associated with multisystem disorders. This study identified a severe ciliopathy disorder in a nonconsanguineous Saudi family, with a homozygous splice site variant in the TTC26 gene found to perfectly cosegregate with the disease phenotype. The study further supports the evidence that homozygous variants in the TTC26 gene can lead to severe ciliopathies with diverse phenotypes.

MOLECULAR SYNDROMOLOGY (2021)

Article Respiratory System

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Fuad Al Mutairi et al.

BMC PULMONARY MEDICINE (2020)

Article Clinical Neurology

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Abdulaziz Asiri et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)

Editorial Material Pediatrics

Osteopetrosis and renal tubular acidosis: Questions

Ankur Singh et al.

PEDIATRIC NEPHROLOGY (2020)

Review Physiology

CLC CHLORIDE CHANNELS AND TRANSPORTERS: STRUCTURE, FUNCTION, PHYSIOLOGY, AND DISEASE

Thomas J. Jentsch et al.

PHYSIOLOGICAL REVIEWS (2018)

Article Genetics & Heredity

Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient

Joon Yeon Won et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)

Review Endocrinology & Metabolism

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group

Calvin C. Wu et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)

Article Endocrinology & Metabolism

C1cn7F318L/+ as a new mouse model of Albers-Schonberg disease

J. Caetano-Lopes et al.

Article Multidisciplinary Sciences

Molecular architecture of the human U4/U6.U5 tri-snRNP

Dmitry E. Agafonov et al.

SCIENCE (2016)

Article Medicine, General & Internal

A Fatal Case of Infantile Malignant Osteopetrosis Complicated by Pulmonary Arterial Hypertension after Hematopoietic Stem Cell Transplantation

Yuichi Kuroyanagi et al.

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE (2014)

Article Biochemistry & Molecular Biology

Nonsense-mediated mRNA decay (NMD) mechanisms

Saverio Brogna et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)

Review Genetics & Heredity

Osteopetrosis

Zornitza Stark et al.

ORPHANET JOURNAL OF RARE DISEASES (2009)

Review Endocrinology & Metabolism

Genetics, pathogenesis and complications of osteopetrosis

Andrea Del Fattore et al.

Article Biochemistry & Molecular Biology

Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man

U Kornak et al.