Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation.

Conclusions: CEP290 mutations are associated with a variety of overlapping clinical phenotypes, some of which will become better understood as more patients with these conditions survive to reproductive age. Similarly, increased understanding of the molecular mechanisms that underlie differences in phenotype may provide avenues to consider in future therapies. PMID: 32208788 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Related Links:

Condition:   Infertility, Female Intervention:   Behavioral: Mindfulness based psychological intervention Sponsor:   University Hospital, Geneva Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Nonobstructive azoospermia (NOA) is a severe form of male infertility. The molecular basis of NOA is still poorly understood. The aim of this study was to explore the associations between single nucleotide polymorphisms (SNPs) of the TATA-box binding protein associated factor 4b (TAF4B) gene and NOA. A total of 100 Han Chinese patients with NOA and 100 healthy men as controls were recruited. Targeted gene capture sequencing was performed. A total of 11 TAF4B SNPs were screened in the NOA and control subjects. Six synonymous and 4 nonsynonymous variants were detected. The c.11G>T (p.G4V) mutation was detected only in NOA...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
In this study we addressed this challenge by focusing on the cumulin interface formed by the helix of the GDF9 chain and the fingers of the BMP15 chain. We demonstrate that unique BMP15 finger residues at this site (Arg301, Gly304, His307, and Met369) enable potent activation of the SMAD2/3 pathway. Incorporating these BMP15 residues into latent GDF9 generated a highly potent growth factor, called hereafter Super-GDF9. Super-GDF9 was>1000-fold more potent than WT human GDF9 and 4-fold more potent than cumulin in SMAD2/3-responsive transcriptional assays in granulosa cells. Our demonstration that Super-GDF9 can effective...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Protein Structure and Folding Source Type: research
AbstractPolyparasitism occurs when animals harbour multiple parasites concomitantly. It is a common occurrence but is generally understudied in wild and domestic animals.Fasciola hepatica andEchinococcus granulosus, which are helminths of ungulates, frequently coinfect cattle. The effects of this particular type of polyparasitism are not well documented. The metacestode ofEchinococcus granulosus is surrounded by the adventitial layer, which constitutes the host immune response to the parasite. This layer in cattle is produced by a granulomatous reaction and is involved in echinococcal cyst (EC) fertility. Due to the system...
Source: Veterinary Research - Category: Veterinary Research Source Type: research
ConclusionsInfertile women with UI undergoing assisted reproduction demonstrate different demographic and clinical characteristics compared to those of other causes of infertility, albeit live birth rates are similar.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
Authors: Adamczewska D, Slowikowska-Hilczer J, Marchlewska K, Walczak-Jedrzejowska R Abstract INTRODUCTION: There is evidence that disturbed spermatogenesis is associated with impaired Leydig cell function and that it may be the result of testicular dysgenesis during fetal/infant development. Sertoli cell-only syndrome (SCOS) is defined by complete lack of germ cells in the seminiferous epithelium. The pathogenesis of SCOS is still not well understood. The aim of the study is to evaluate testes with SCOS focusing on morphometric signs of testicular dysgenesis and markers of Leydig cell (LC) function in relation to ...
Source: Folia Histochemica et Cytobiologica - Category: Cytology Tags: Folia Histochem Cytobiol Source Type: research
Conclusion: To the best of our knowledge, this research is the first experimental cerebral hydatidosis arisen from larval stage of Echinococcus granulosus in the animal model. PMID: 32489381 [PubMed]
Source: Iranian Journal of Parasitology - Category: Parasitology Tags: Iran J Parasitol Source Type: research
Conditions:   Infertility;   Infertility, Female;   IVF;   hCG Interventions:   Drug: hCG;   Diagnostic Test: Ultrasound;   Other: Blood test Sponsor:   IVI Middle East Fertility Clinic Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Abstract Receptor accessory protein 6 (REEP6) is a member of the REEP/Ypt-interacting protein (Yip) family that we recently identified as essential for normal endoplasmic reticulum (ER) homeostasis and protein trafficking in the retina of mice and humans. Interestingly, in addition to the loss of REEP6 in our knockout (KO) mouse model recapitulating the retinal degeneration of humans with REEP6 mutations causing retinitis pigmentosa, we also found that male mice are sterile. Herein we characterize the infertility caused by loss of Reep6. Expression of both Reep6 mRNA transcripts are present in the testis; however,...
Source: Biology of Reproduction - Category: Reproduction Medicine Authors: Tags: Biol Reprod Source Type: research
We describe two cases of DM and RP occurring together. The first case was a 35-year-old male who presented with insulin-treated diabetes, obesity, hypertension, polydactyly, normal cognitive functions, an ataxic gait, blindness secondary to RP, dyslipidemia, impaired renal function, and multiple renal cysts. He was diagnosed clinically as having Bardet-Biedl syndrome. The second case was a 34-year-old male who presented with insulin-resistant diabetes, hypertension, blindness secondary to RP, deafness, normal cognitive functions, primary infertility, renal, and liver impairment. He was diagnosed clinically as having Alstr&...
Source: Annals of Saudi Medicine - Category: General Medicine Tags: ISSUE 1 Source Type: research
More News: Genetics | Infertility | Opthalmology | Reproduction Medicine | Retinitis Pigmentosa