Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics

We analyzed three cases of Complete Androgen Insensitivity Syndrome (CAIS) and report three hitherto undisclosed causes of the disease. RNA-Seq, Real-timePCR, Western immunoblotting, and immunohistochemistry were performed with the aim of characterizing the disease-causing variants. In case No.1, we...

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Bibliographic Details
Main Authors: Agnieszka Malcher, Piotr Jedrzejczak, Tomasz Stokowy, Soroosh Monem, Karolina Nowicka-Bauer, Agnieszka Zimna, Adam Czyzyk, Marzena Maciejewska-Jeske, Blazej Meczekalski, Katarzyna Bednarek-Rajewska, Aldona Wozniak, Natalia Rozwadowska, Maciej Kurpisz
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:International Journal of Molecular Sciences
Subjects:
morris syndrome
androgen insensitivity syndrome
infertility
spermatogenesis
biomarkers
rare disease
rna-seq
Online Access:https://www.mdpi.com/1422-0067/20/21/5418

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https://www.mdpi.com/1422-0067/20/21/5418

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