WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
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DOI: 10.1002/humu.23128
Abstract: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene,… read more here.
Keywords: spectrum patient; wrn mutation; mutation update; update mutation ... See more keywords
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
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DOI: 10.1002/mgg3.1944
Abstract: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. read more here.
Keywords: spectrum congenital; heart disease; mutation spectrum; congenital heart ... See more keywords
Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review
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DOI: 10.1002/mgg3.2052
Abstract: Hearing loss (HL) is a heterogeneous condition that causes partial or complete hearing impairment. Hundreds of variants in >60 genes have been reported to be associated with Hereditary HL (HHL), variants of the GJB2 gene… read more here.
Keywords: hearing loss; loss; non syndromic; mutation spectrum ... See more keywords
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease
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DOI: 10.1038/s10038-019-0599-z
Abstract: The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with… read more here.
Keywords: fabry disease; disease; galactosidase; gene ... See more keywords
Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation
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DOI: 10.1111/ene.14700
Abstract: Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the… read more here.
Keywords: motor neuropathies; distal hereditary; hereditary motor; neuropathies mutation ... See more keywords
Corrigendum to “Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles”
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DOI: 10.1155/2018/3039672
Abstract: [This corrects the article DOI: 10.1155/2018/5706142.]. read more here.
Keywords: greek cohort; spectrum abca4; corrigendum mutation; gene greek ... See more keywords
Clinical sequencing uncovers the genomic characteristics and mutation spectrum of the 2018 African swine fever virus in Guangdong, China
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DOI: 10.3389/fvets.2022.978243
Abstract: African swine fever (ASF) outbreak have caused tremendous economic loss to the pig industry in China since its emergence in August 2018. Previous studies revealed that many published sequences are not suitable for detailed analyses… read more here.
Keywords: mutation; african swine; mutation spectrum; swine fever ... See more keywords
Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia
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DOI: 10.3390/diagnostics13050894
Abstract: (1) Background: Alpha (α)-thalassaemia is a genetic disorder that affects 5% of the world population. Deletional or nondeletional mutations of one or both HBA1 and HBA2 on chromosome 16 will result in reduced production of… read more here.
Keywords: alpha thalassaemia; gene mutation; mutation spectrum; sea ... See more keywords
Specificities of the DMD Gene Mutation Spectrum in Russian Patients
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DOI: 10.3390/ijms232112710
Abstract: Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a program of selective screening for DMD/BMD, which… read more here.
Keywords: russian patients; dmd gene; gene; mutation spectrum ... See more keywords
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia
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DOI: 10.3390/jpm13020172
Abstract: During differential diagnosis of diabetes mellitus, the greatest difficulties are encountered with young patients because various types of diabetes can manifest themselves in this age group (type 1, type 2, and monogenic types of diabetes… read more here.
Keywords: mody; mutation spectrum; diabetes mellitus; gene ... See more keywords
Mutation Spectrum of Primary Lipid Storage Myopathies
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DOI: 10.4103/aian.aian_333_21
Abstract: Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe… read more here.
Keywords: lipid storage; spectrum primary; mutation spectrum; storage myopathies ... See more keywords