A Common Mutation in the Defensin DEFB126 Causes Impaired Sperm Function and Subfertility

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

P-24: Beta Defensin 126 and Its Role in Intra-Uterine Insemination Outcome

Background: Human β-defensin 126 is a small cationic glycoprotein that coats the plasma membrane of sperm during epididymal transit. It provides protection for sperms from infection-causing microbes and against the female immune system. Defensin remains on the sperm until sperm become capacitated in the female reproductive tract. DEFB126 gene is located on the subtelomeric end of 20p13 in human...

متن کامل

A Nonsense Mutation in TMEM95 Encoding a Nondescript Transmembrane Protein Causes Idiopathic Male Subfertility in Cattle

Genetic variants underlying reduced male reproductive performance have been identified in humans and model organisms, most of them compromising semen quality. Occasionally, male fertility is severely compromised although semen analysis remains without any apparent pathological findings (i.e., idiopathic subfertility). Artificial insemination (AI) in most cattle populations requires close examin...

متن کامل

A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families

Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It  has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...

متن کامل

Assessment of sperm function and clinical aspects of impaired sperm function.

Fertility is dependent on a complex set of events, involving both male and female components. Normal sperm function involves many steps, including motility, capacitation, acrosome reactivity and, ultimately, fertilization of the oocyte. While male fertility is most often assessed by means of gross semen parameters, infertility may also be caused by abnormal sperm function, and only by performin...

متن کامل

Validity of self-reported causes of subfertility.

The authors assessed the accuracy of cause(s) of subfertility as reported by women in a self-administered questionnaire in comparison with medical record information, in a nationwide cohort study of women receiving in vitro fertilization treatment in the Netherlands (n = 9,164) between 1983 and 1995. Validity was expressed as sensitivity and specificity, and reliability was expressed by the kap...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Science Translational Medicine

سال: 2011

ISSN: 1946-6234,1946-6242

DOI: 10.1126/scitranslmed.3002289