Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hongyu LONG"'
Autor:
Juan Li, Yu Yuan, Chaorong Liu, Yuchen Xu, Neng Xiao, Hongyu Long, Zhaohui Luo, Shujuan Meng, Hua Wang, Bo Xiao, Xiao Mao, Lili Long
Publikováno v:
Human mutationREFERENCES. 43(7)
Neurodevelopmental disorders (NDD) are complex and multifaceted diseases involving genetic and environmental sciences. Rapid developments in sequencing techniques have made it possible to identify new disease-causing genes. Our study aimed to identif
Publikováno v:
Clinical Genetics. 102:355-356
Publikováno v:
Molecular geneticsgenomic medicineREFERENCES.
Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early-onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia,
Autor:
Carlos A. Bacino, Jill A. Rosenfeld, Hyunglok Chung, Lindsay C. Burrage, Hugo J. Bellen, Pengfei Liu, Hongyu Long, David R. Murdock, Bo Xiao, Xiao Mao, Hsiao-Tuan Chao, Ye-Jin Park, Li Feng, Hua Wang, Michael F. Wangler, Shinya Yamamoto, Paul C. Marcogliese
Publikováno v:
Am J Hum Genet
We identified three unrelated individuals with de novo missense variants in CDK19, encoding a cyclin-dependent kinase protein family member that predominantly regulates gene transcription. These individuals presented with hypotonia, global developmen
Publikováno v:
Journal of human genetics. 67(2)
Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patien
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
Frontiers in Genetics
The IFIH1 gene encodes melanoma differentiation-associated gene 5 (MDA5) and has been associated with Aicardi-Goutières syndrome (AGS), Singleton-Merten syndrome (SMS), and other autoimmune diseases. The mechanisms responsible for how a functional c
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Glycosylphosphatidylinositol (GPI) is a membrane anchor for cell surface proteins. Inherited GPI deficiencies are a new subclass of congenital disorders of glycosylation. Phosphatidylinositol glycan class S (PIGS) is a subunit of the GPI transamidase