Guiling Mo
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View article: Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b
Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b Open
During the development of the vertebrate nervous system, 50% of the nerve cells undergo apoptosis shortly after formation. This process is important for sculpting tissue during morphogenesis and removing transiently functional cells that a…
View article: A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report
A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report Open
Background Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding cassette subfamily …
View article: A female case of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid
A female case of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid Open
Background Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressing autosomal recessive genetic diseases characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP binding cassette sub…
View article: Functional Verification of Novel ELMO1 Variants by Live Imaging in Zebrafish
Functional Verification of Novel ELMO1 Variants by Live Imaging in Zebrafish Open
ELMO1 (Engulfment and Cell Motility1) is a gene involved in regulating cell motility through the ELMO1-DOCK2-RAC complex. Contrary to DOCK2 (Dedicator of Cytokinesis 2) deficiency, which has been reported to be associated with immunodefici…
View article: Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report
Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report Open
Pearson syndrome (PS), also known as Pearson marrow-pancreas syndrome, is a rare, multi-systemic disorder caused by large-scale deletion of mitochondrial DNA (mtDNA) ranging from 2.3 kb to 9 kb, with 4,977 bp in length as the most common v…
View article: Co‐occurrence of <i>ATXN3</i> and <i>ATXN2 </i>repeat expansions in Chinese ataxia patients with slow saccades
Co‐occurrence of <i>ATXN3</i> and <i>ATXN2 </i>repeat expansions in Chinese ataxia patients with slow saccades Open
Background The presence of more than one polyQ‐related gene within a single individual is a rare incidence, which may provide the potential opportunity to study the combined effects of these spinocerebellar ataxia (SCA) genes. Methods We r…
View article: A novel KMT2D mutation resulting in Kabuki syndrome: A case report
A novel KMT2D mutation resulting in Kabuki syndrome: A case report Open
Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, card…