Literature DB >> 28075027

A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.

C-M Oh1, S Chun1, J-E Lee2, J S Lee3, S Park4, H Y Gee3, S W Kim5,6.   

Abstract

A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2017        PMID： 28075027     DOI： 10.1111/cge.12966

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.

Authors:  Feng Zhu; Min Zhou; Xiuling Deng; Yujuan Li; Jing Xiong
Journal:  Front Endocrinol (Lausanne)       Date:  2022-06-16       Impact factor: 6.055

2.  Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.

Authors:  Nikolaos Kyriakakis; Tolulope Shonibare; Julie Kyaw-Tun; Julie Lynch; Carlos F Lagos; John C Achermann; Robert D Murray
Journal:  Pituitary       Date:  2017-10       Impact factor: 4.107

3.  Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.

Authors:  Ikhyun Jun; Joon Suk Lee; Ji Hwan Lee; Christopher Seungkyu Lee; Seung-Il Choi; Heon Yung Gee; Min Goo Lee; Eung Kweon Kim
Journal:  Sci Rep       Date:  2017-08-22       Impact factor: 4.379

4.  Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.

Authors:  Chanisara Suthiworachai; Rachaneekorn Tammachote; Chalurmpon Srichomthong; Rungnapa Ittiwut; Kanya Suphapeetiporn; Taninee Sahakitrungruang; Vorasuk Shotelersuk
Journal:  J Endocr Soc       Date:  2018-12-12

5.  Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.

Authors:  Michelle Cerutti C Vargas; Felipe Scipião Moura; Cecília P Elias; Sara R Carvalho; Nelson Rassi; Ilda S Kunii; Magnus R Dias-da-Silva; Flavia Amanda Costa-Barbosa
Journal:  BMC Endocr Disord       Date:  2020-02-06       Impact factor: 2.763

6.  Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review.

Authors:  Yuhan Wang; Xiufen Liu; Xiaona Xie; Jingjing He; Ying Gao
Journal:  Exp Ther Med       Date:  2022-08-19       Impact factor: 2.751

7.  A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.

Authors:  Judith Gerards; Michael M Ritter; Elke Kaminsky; Andreas Gal; Wolfgang Hoeppner; Marcus Quinkler
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2017-09-04

8.  Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism.

Authors:  Yutaka Hasegawa; Yoshihiko Takahashi; Yuichiro Kezuka; Wataru Obara; Yoichiro Kato; Shukuko Tamura; Ken Onodera; Toshie Segawa; Tomoyasu Oda; Marino Sato; Koji Nata; Takamasa Nonaka; Yasushi Ishigaki
Journal:  J Endocr Soc       Date:  2020-11-13

Review 9.  The Genetic Backdrop of Hypogonadotropic Hypogonadism.

Authors:  Anna Szeliga; Michal Kunicki; Marzena Maciejewska-Jeske; Natalia Rzewuska; Anna Kostrzak; Blazej Meczekalski; Gregory Bala; Roman Smolarczyk; Eli Y Adashi
Journal:  Int J Mol Sci       Date:  2021-12-08       Impact factor: 5.923
  9 in total

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