Search
Search Results
-
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier
BackgroundCholesterol ester storage disorder (CESD; OMIM: 278,000) was formerly assumed to be an autosomal recessive allelic genetic condition...
-
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis
PurposeTo describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1 -related autosomal...
-
Abnormal H3K4 enzyme catalytic activity and neuronal morphology caused by ASH1L mutations in individuals with Tourette syndrome
ASH1L potentially contributes to Tourette syndrome (TS) and other neuropsychiatric disorders, as our previous studies have shown. It regulates...
-
COLQ-related congenital myasthenic syndrome: An integrative view
Congenital myasthenic syndromes are inherited disorders caused by mutation in components of the neuromuscular junction and manifest early in life....
-
Genetic etiology of progressive pediatric neurological disorders
BackgroundThe aim of the study was to characterize molecular diagnoses in patients with childhood-onset progressive neurological disorders of...
-
Computational insights into missense mutations in HTT gene causing Huntington’s disease and its interactome networks
BackgroundHuntington’s disease is a rare neurodegenerative illness of the central nervous system that is inherited in an autosomal dominant pattern....
-
TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases
BackgroundA20 haploinsufficiency (HA20) is a newly introduced autosomal dominant autoinflammatory disorder, also known as Behcet’s-like disease. Some...
-
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism
BackgroundCongenital hypothyroidism (CH) is a common neonatal endocrine disorder, characterized by irreversible intellectual disability and short...
-
Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling
PurposeRecent advances in sequencing technologies have enabled radical and rapid progress in the genetic diagnosis of inherited retinal disorders...
-
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families
BackgroundIn metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the...
-
Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines
Clinical use of gene panel testing for hematopoietic neoplasms in areas, such as diagnosis, prognosis prediction, and exploration of treatment...
-
Fulminant H1N1 and severe acute respiratory syndrome coronavirus-2 infections with a 4-year interval without an identifiable underlying cause: a case report
BackgroundThe clinical presentation of severe acute respiratory syndrome coronavirus-2 infection is highly variable from asymptomatic infection to...
-
Insights into the structural and functional analysis of impact of the missense mutations on α-synuclein: an in silico study
BackgroundAlpha synuclein (α-synuclein) is coded by SNCA gene and found in a helical form with phospholipids or in an unfolded arrangement in the...
-
Analyzing Genetic Differences Between Sporadic Primary and Secondary/Tertiary Hyperparathyroidism by Targeted Next-Generation Panel Sequencing
Secondary hyperparathyroidism (SHPT) is characterized by excessive serum parathyroid hormone levels in response to decreasing kidney function, and...
-
Prioritization of genes associated with type 2 diabetes mellitus for functional studies
Existing therapies for type 2 diabetes mellitus (T2DM) show limited efficacy or have adverse effects. Numerous genetic variants associated with T2DM...
-
Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysis
BackgroundSporadic lymphangioleiomyomatosis (S-LAM) is a rare neoplasm with heterogeneous clinical features that is conventionally considered to be...
-
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant
IntroductionHypophosphatasia (HPP) is a rare inherited disorder, caused by mutations in the alkaline phosphatase ( ALPL) gene, which encodes for the...
-
Analysis of missense SNPs in the SLC47A1 and SLC47A2 genes affecting the pharmacokinetics of metformin: Computational approach
BackgroundMetformin as an anti-hyperglycaemic drug is commonly used for the treatment of type 2 diabetes mellitus (T2DM). The metformin response is...
-
Thrombotic microangiopathy in aHUS and beyond: clinical clues from complement genetics
Studies of complement genetics have changed the landscape of thrombotic microangiopathies (TMAs), particularly atypical haemolytic uraemic syndrome...
-
Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review
ObjectivesPhenylketonuria (PKU) is the most prevalent congenital disease of amino acid metabolism. Neurological manifestations usually complicate PKU...
