Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence
نویسندگان
چکیده
منابع مشابه
MAMLD1 (CXorf6): a new gene involved in hypospadias.
MAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chromosome X open reading frame 6), has been shown to be a causative gene for hypospadias. This is primarily based on the identification of nonsense mutations (E124X, Q197X, and R653X), which undergo nonsense-mediated mRNA decay, in patients with penoscrotal hypospadias. Subsequent studies have shown that (1) the mouse ho...
متن کاملMAMLD1 (CXorf6) is a New Gene for Hypospadias
MAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chromosome X open reading frame 6), has been shown to be a causative gene for hypospadias. This is primarily based on the identification of nonsense mutations (E124X, Q197X, and R653X), which undergo nonsense mediated mRNA decay, in patients with penoscrotal hypospadias. Subsequent molecular studies have shown that the mo...
متن کاملX-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report
UNLABELLED INTRODUCTION X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the firs...
متن کاملAssociation of MAMLD1 single-nucleotide polymorphisms with hypospadias in Chinese Han population.
Hypospadias is one of the most common congenital malformations among children. Both gene mutations and environmental factors are thought to be involved in the development of hypospadias. The mastermind-like domain-containing 1 gene (MAMLD1, formerly CXorf6) is a new candidate gene and its mutation has been shown in some cases of hypospadias. Here, by direct sequencing of PCR products, we assess...
متن کاملcorrelation between patatin-like phospholipase domain-containing protein 3 gene polymorphisms and liver cirrhosis in a chinese han population with chronic hepatitis b
results the allele and genotype distributions of pnpla3 rs738409 and rs2281135 were not significantly different between the chb and lc groups. after segregation on the basis of sex, no significant correlation between pnpla3 (rs738409 and rs2281135) genotypes/alleles and liver cirrhosis was detected. moreover, none of the haplotypes in pnpla3 (rs738409 and rs2281135) was found to be statisticall...
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ژورنال
عنوان ژورنال: International Journal of Clinical Urology
سال: 2019
ISSN: 2640-1320
DOI: 10.11648/j.ijcu.20190301.15