Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome-Reference-Cited by-同舟云学术

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Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome

Published:2019-06 Issue: Volume:702 Page:99-106
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Dai Wenting^ORCID,Wu Jiayu,Zhao Yaguang,Jiang Fang,Zheng Ruizhi,Chen Dan-Na,Men Meichao,Li Jia-Da

Funder

National Natural Science Foundation of China

Hunan Province

Natural Science Foundation of Hunan Province

Training Program Foundation for Excellent innovation Youth of Changsha

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference38 articles.

1. Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation;Barnett;Am. J. Med. Genet. A,2009

2. Olfactory ensheathing glia are required for embryonic olfactory axon targeting and the migration of gonadotropin-releasing hormone neurons;Barraud;Biology Open,2013

3. The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism;Bianco;Nat. Rev. Endocrinol.,2009

4. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment;Boehm;Nat. Rev. Endocrinol.,2015

5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am. J. Hum. Genet.,2007

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome;Molecular Syndromology;2024-03-22

2. Clinical Manifestations, Genetic Variants and Therapeutic Evaluation in Sporadic Chinese Patients with Idiopathic Hypogonadotropic Hypogonadism;International Journal of General Medicine;2023-09

3. Genetics of congenital olfactory dysfunction: a systematic review of the literature;Chemical Senses;2022-01-01

4. Kalmann syndrome in monozygous twins as an isolated manifestation of the SOX10 gene defect;Problems of Endocrinology;2021-11-12

5. SOX10: 20 years of phenotypic plurality and current understanding of its developmental function;Journal of Medical Genetics;2021-10-19

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