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Gene Mutations Linked to Rare Form of Female Infertility

Screening could spare these women unnecessary treatment, researchers say Source: HealthDay Related MedlinePlus Pages: Female Infertility, Genes and Gene Therapy, Infertility
Source: MedlinePlus Health News - Category: Consumer Health News Source Type: news

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Publication date: Available online 5 April 2018 Source:Stem Cell Reports Author(s): Satoshi Watanabe, Mito Kanatsu-Shinohara, Narumi Ogonuki, Shogo Matoba, Atsuo Ogura, Takashi Shinohara Adeno-associated virus (AAV) penetrates the blood-brain barrier, but it is unknown whether AAV penetrates other tight junctions. Genetic manipulation of testis has been hampered by the basement membrane of seminiferous tubules and the blood-testis barrier (BTB), which forms between Sertoli cells and divides the tubules into basal and adluminal compartments. Here, we demonstrate in vivo genetic manipulation of spermatogonial stem cell...
Source: Stem Cell Reports - Category: Stem Cells Source Type: research
When Tina Gibson got married seven years ago, she knew it was unlikely that she would have children naturally. Her husband, 33-year-old Benjamin Gibson, had cystic fibrosis, a condition that can make men infertile, the couple told CNN. The East Tennessee couple decided they would eventually adopt a child instead — and that they would foster several children […]Related:FDA approves first gene therapy for an inherited diseaseThis model lost a leg because of an infection from tampons. Here’s what she wants you to know.Debate erupts within HHS about ‘words to avoid’ such as ‘...
Source: Washington Post: To Your Health - Category: Consumer Health News Source Type: news
When Tina Gibson got married seven years ago, she knew it was unlikely that she would have children naturally. Her husband, 33-year-old Benjamin Gibson, had cystic fibrosis, a condition that can make men infertile, the couple told CNN. The East Tennessee couple decided they would eventually adopt a child instead — and that they would foster several children […]Related:FDA approves first gene therapy for an inherited diseaseThis model lost a leg because of an infection from tampons. Here’s what she wants you to know.Debate erupts within HHS about ‘words to avoid’ such as ‘...
Source: Washington Post: To Your Health - Category: Consumer Health News Source Type: news
Publication date: Available online 2 December 2017 Source:Molecular and Cellular Endocrinology Author(s): Annalucia Darbey, Lee B. Smith Male infertility and hypogonadism are clinically prevalent conditions with a high socioeconomic burden and are both linked to an increased risk in cardiovascular-metabolic diseases and earlier mortality. Therefore, there is an urgent need to better understand the causes and develop new treatments for these conditions that affect millions of men. The accelerating advancement in gene editing and delivery technologies promises improvements in both diagnosis as well as affording the opportun...
Source: Molecular and Cellular Endocrinology - Category: Endocrinology Source Type: research
Authors: Ghafuri DL, Stimpson SJ, Day ME, James A, DeBaun MR, Sharma D Abstract INTRODUCTION: Sickle cell disease (SCD) represents one of the most common monogenic blood disorders worldwide, with an incidence of over 300,000 newborns affected per year. Reproductive challenges for men and women with SCD have been previously reviewed; however, evidence-based strategies to prevent and manage infertility and increase fecundity are lacking in women with SCD, which is one of the most important factors for quality of life. Areas covered: This review article summarizes the known risk factors for infertility, low fecundity,...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
This study shows that lifespan-extending conditions can slow molecular changes associated with an epigenetic clock in mice livers. Diverse interventions that extend mouse lifespan suppress shared age-associated epigenetic changes at critical gene regulatory regions Age-associated epigenetic changes are implicated in aging. Notably, age-associated DNA methylation changes comprise a so-called aging "clock", a robust biomarker of aging. However, while genetic, dietary and drug interventions can extend lifespan, their impact on the epigenome is uncharacterised. To fill this knowledge gap, we defined...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
BACKGROUNDInitially identified for their capability to induce heterotopic bone formation, bone morphogenetic proteins (BMPs) are multifunctional growth factors that belong to the transforming growth factor β superfamily. Using cellular and molecular genetic approaches, recent studies have implicated intra-ovarian BMPs as potent regulators of ovarian follicular function. The bi-directional communication of oocytes and the surrounding somatic cells is mandatory for normal follicle development and oocyte maturation. This review summarizes the current knowledge on the physiological role and molecular determinants of these...
Source: Human Reproduction Update - Category: OBGYN Source Type: research
BACKGROUND Initially identified for their capability to induce heterotopic bone formation, bone morphogenetic proteins (BMPs) are multifunctional growth factors that belong to the transforming growth factor β superfamily. Using cellular and molecular genetic approaches, recent studies have implicated intra-ovarian BMPs as potent regulators of ovarian follicular function. The bi-directional communication of oocytes and the surrounding somatic cells is mandatory for normal follicle development and oocyte maturation. This review summarizes the current knowledge on the physiological role and molecular determinants of thes...
Source: Human Reproduction Update - Category: OBGYN Authors: Tags: Review Source Type: research
Publication date: Available online 1 December 2016 Source:Pharmacology & Therapeutics Author(s): Isabelle Fajac, Kris De Boeck Cystic fibrosis is an inherited multi-system disease associated with chronic lung infection, malabsorption, salt loss syndromes, male infertility and leading to numerous comorbidities. The landscape in cystic fibrosis care has changed markedly with currently more adult patients than children in many countries. Over 2000 different mutations in the CFTR gene have been reported and the majority are extremely rare. Understanding how CFTR mutations translate to disturbed synthesis or function of th...
Source: Pharmacology and Therapeutics - Category: Drugs & Pharmacology Source Type: research
The BRCA1 mutation may speed the aging of a woman's ovaries, researchers report Source: HealthDay Related MedlinePlus Pages: Breast Cancer, Female Infertility, Genes and Gene Therapy
Source: MedlinePlus Health News - Category: Consumer Health News Source Type: news
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