Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens

Thursday, October 29, 2015
Detection of mutations in all coding regions of the CFTR gene has great significance for patients with congenital absence of vas deferens, particularly because the relevant studies have not been performed in China.

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The role of EMX2 in uterine development

Friday, February 27, 2015
Reflections on "Nonsense mutation of EMX2 is potential causative for uterus didelphysis: first molecular explanation for incomplete Mullerian fusion (IMF)" by Liu et al.

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Genome wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism

Wednesday, June 11, 2014
Molecular analyses of 58 patients with hypogonadotropic hypogonadism revealed the relatively minor contribution of known genetic defects, and identified submicroscopic genomic rearrangement and SOX3 and WDR11 mutations as rare etiologies.

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Role of gonadotropin releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay

Friday, May 30, 2014
GnRH receptor analysis showed deleterious mutations in 10% of normosmic isolated hypogonadotropic hypogonadism patients, with a good genotype-phenotype correlation. No significant alterations were identified in constitutional delay of growth and puberty.

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Cystic fibrosis transmembrane regulator mutation and congenital bilateral absence of the vas deferens A bad combination for successful intracytoplasmic sperm injection outcomes

Wednesday, April 30, 2014
Reflections on "Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens" by Lu et al.

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Prevalence of the Aurora kinase C c144delC mutation in infertile Moroccan men

Monday, March 31, 2014
The AURKC gene causes male infertility in humans. Here we demonstrate that the AURKC c.144delC has a relatively high carrier frequency in the Moroccan population.

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Aromatase and estrogen resistance α deficiency

Friday, January 31, 2014
Mutations in the aromatase or estrogen receptor a genes severely restrict estrogen formation or action but are still compatible with life.

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The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome

Tuesday, April 30, 2013
A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with Kallmann syndrome; their mother is heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013.

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Characterization of two heterozygous mutations of the oocyte activation factor phospholipase C zeta (PLCζ) from an infertile male by use of minisequencing of individual sperm and expression in somatic cells

Thursday, June 7, 2012
Investigating contributory factors to infertility in a man with two phospholipase C zeta (PLCz) mutations found loss-of-activity mutations in PLCz potentially resulting in a slower rate of mutant protein transcription.

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