ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria-Reference-Cited by-同舟云学术

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria

Published:2019-05-23 Issue:6 Volume:34 Page:1155-1164
ISSN:0268-1161
Container-title:Human Reproduction
language:en
Short-container-title:

Author:

Akbari Arvand¹²,Pipitone Giovanni Battista³,Anvar Zahra⁴⁵,Jaafarinia Mojtaba¹²,Ferrari Maurizio³⁶⁷,Carrera Paola³⁶,Totonchi Mehdi⁸⁹

Affiliation:

1. Department of Biology, Faculty of Science, Fars Science and Research Branch, Islamic Azad University, Marvdasht, Iran

2. Department of Biology, Faculty of Science, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran

3. Laboratory of Clinical Molecular Biology and Cytogenetics, IRCCS San Raffaele Hospital, Milan, Italy

4. Infertility Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

5. Department of Obstetrics & Gynecology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

6. Genomic Unit for the Diagnosis of Human Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Hospital, Milan, Italy

7. Vita-Salute San Raffaele University, Milan, Italy

8. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

9. Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran

Funder

San Raffaele Hospital

Royan Institute

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynaecology,Rehabilitation,Reproductive Medicine

Link

http://academic.oup.com/humrep/advance-article-pdf/doi/10.1093/humrep/dez048/28695773/dez048.pdf

Reference40 articles.

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3. Central role of soluble adenylyl cyclase and cAMP in sperm physiology;Buffone;Biochim Biophys Acta,2014

4. A soluble adenylyl cyclase form targets to axonemes and rescues beat regulation in soluble adenylyl cyclase knockout mice;Chen;Am J Respir Cell Mol Biol,2014

5. Teratozoospermia: spotlight on the main genetic actors in the human;Coutton;Hum Reprod Update,2015

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