Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China

2005 ◽  
Vol 153 (6) ◽  
pp. 1213-1215 ◽  
Author(s):  
Y.H. Liang ◽  
M. Gao ◽  
L.D. Sun ◽  
L.J. Liu ◽  
Y. Cui ◽  
...  
Keyword(s):  
Literature Review ◽  
Gene Mutations ◽  
Chinese Families ◽  
Cyld Gene

Rare occurrence of biallelic CYLD gene mutations in classical Hodgkin lymphoma

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Annette Schmidt ◽  
Roland Schmitz ◽  
Maciej Giefing ◽  
Jose Ignacio Martin-Subero ◽  
Stefan Gesk ◽  
...  
Keyword(s):  
Hodgkin Lymphoma ◽  
Gene Mutations ◽  
Rare Occurrence ◽  
Classical Hodgkin Lymphoma ◽  
Cyld Gene

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

2010 ◽  
Vol 58 (5) ◽  
pp. 743 ◽  
Author(s):  
ZheFeng Yuan ◽  
CuiWei Yang ◽  
HaiFeng Li ◽  
ZheZhi Xia ◽  
QuanXiang Shui ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Gene Mutations ◽  
Myotonia Congenita ◽  
Chinese Families ◽  
Channel Gene

scholarly journals Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations

2021 ◽  
Vol 16 (1-2) ◽  
pp. 10-41
Author(s):  
K. Yu. Mukhin ◽  
O. A. Pylaeva ◽  
M. Yu. Bobylova ◽  
V. A. Chadaev
Keyword(s):  
Literature Review ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Case Series ◽  
Gene Mutations ◽  
Epileptic Encephalopathy ◽  
Serine Threonine Kinase ◽  
Gene Encoding ◽  
Threonine Kinase

The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant studies analyzing the disease caused by CDKL5 gene mutations, including its genetic and epidemiological aspects, clinical manifestations, characteristics of epilepsy, principles of diagnosis, and therapeutic approaches. We present a case series of several patients with genetic disorders involving the CDKL5 gene.

Non-Syndromic Hereditary Gingival Fibromatosis in Three Chinese Families is Not Due to SOS1 Gene Mutations

2014 ◽  
Vol 70 (3) ◽  
pp. 1869-1873 ◽  
Author(s):  
Yanyan Ma ◽  
Zheng Sun ◽  
Ying Hu ◽  
Yi Liu ◽  
Lingling Jin ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Chinese Families ◽  
Gingival Fibromatosis

Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome

2016 ◽  
Vol 12 (4) ◽  
pp. 484-488 ◽  
Author(s):  
Yan Gao ◽  
Fang Jiang ◽  
Zhi-Ying Ou
Keyword(s):  
Gene Mutations ◽  
Lowe Syndrome ◽  
Chinese Families
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