Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia
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DOI: 10.1002/humu.23973
Abstract: NADH‐cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. In this Mutation Update, we provide a comprehensive review of all the pathogenic… read more here.
Keywords: update variants; recessive congenital; mutation update; congenital methemoglobinemia ... See more keywords
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
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DOI: 10.1002/mgg3.539
Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear… read more here.
Keywords: mutations genotype; congenital ichthyosis; unknown mutations; recessive congenital ... See more keywords
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.05.007
Abstract: Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis… read more here.
Keywords: cause; congenital ichthyosis; recessive congenital; autosomal recessive ... See more keywords
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I
Sign Up to like & getrecommendations! Published in 2018 at "Hematology"
DOI: 10.1080/10245332.2018.1444920
Abstract: ABSTRACT Objective: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify molecular defect associated with RCM. Methods: Eight cases of RCM have been addressed to our laboratory in order… read more here.
Keywords: recessive congenital; cyb5r3 gene; congenital methemoglobinemia; mutation ... See more keywords
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations
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DOI: 10.1111/bjd.14860
Abstract: Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome‐P450 family 4, encodes an epidermal ω‐hydroxylase decisive in the formation of acylceramides, which is hypothesized to… read more here.
Keywords: congenital ichthyosis; recessive congenital; morphological alterations; autosomal recessive ... See more keywords
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Dermatology"
DOI: 10.1111/ijd.13568
Abstract: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being… read more here.
Keywords: congenital ichthyoses; congenital; recessive congenital; mutations underlying ... See more keywords
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
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DOI: 10.1111/jdv.14618
Abstract: Autosomal recessive congenital ichthyoses (ARCI) are a clinically and genetically heterogeneous group of non-syndromic ichthyoses due to mutations in at least 9 genes, including PNPLA1 (1). PNPLA1 (Patatin-Like Phospholipase Domain-Containing Protein 1) is strongly expressed… read more here.
Keywords: novel pnpla1; mutations two; pnpla1 mutations; recessive congenital ... See more keywords
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.14944
Abstract: Autosomal recessive congenital ichthyosis (ARCI) refers to non‐syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India. read more here.
Keywords: ichthyosis; india; genotype; recessive congenital ... See more keywords
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
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DOI: 10.1111/pde.15156
Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. To date, more than 13 causative genes have been identified. However, data on clinical and molecular characteristics including genotype–phenotype correlation are lacking… read more here.
Keywords: recessive congenital; molecular characteristics; congenital ichthyosis; clinical molecular ... See more keywords
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs
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DOI: 10.1371/journal.pone.0170708
Abstract: Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin.… read more here.
Keywords: congenital ichthyosis; american bulldogs; recessive congenital; autosomal recessive ... See more keywords
Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23052506
Abstract: Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI). ARCIs are characterized by varying… read more here.
Keywords: ichthyosis; therapy; recessive congenital; congenital ichthyosis ... See more keywords