Zobrazeno 1 - 10
of 3 129
pro vyhledávání: '"Shang Yi"'
Autor:
Qi Yang, Xunzhao Zhou, Sheng Yi, XiaoLing Li, Qiang Zhang, Shujie Zhang, Li Lin, Shang Yi, Biyan Chen, Zailong Qin, Jingsi Luo
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionMutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), develop
Externí odkaz:
https://doaj.org/article/c20e17db125443eb98c7b4e20ec0d477
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microceph
Externí odkaz:
https://doaj.org/article/09ef7f5597724d80b596cb1c8bf748f6
Autor:
Yutong Wen, Xiaotong Chen, Runtong Li, Haiting Xie, Shuai Zhi, Kaitao Wang, Shang Yi, Wen Liang, Haiyan Hu, Shitao Rao, Xiaoya Gao
Publikováno v:
Molecular Therapy: Oncology, Vol 32, Iss 2, Pp 200790- (2024)
N5-methylcytosine (m5C) methylation modification plays a crucial role in the epigenetic mechanisms underlying tumorigenesis, aggressiveness, and malignancy in diffuse glioma. Our study aimed to develop a novel prognostic risk-scoring system to assess
Externí odkaz:
https://doaj.org/article/769249cb3b68468eaadbd8255fe61dc9
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Objective ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype. In this
Externí odkaz:
https://doaj.org/article/9b0e45994a0143849b3a029506bf0839
Autor:
Qi Yang, Xunzhao Zhou, Yeying Ling, Qiang Zhang, Shang Yi, Qiuli Chen, Shujie Zhang, Zailong Qin, Jingsi Luo
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27955- (2024)
Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+-binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with
Externí odkaz:
https://doaj.org/article/a83d46d32c704998a1470d51eeacdb09
Autor:
Sheng Yi, Xianglian Tang, Qiang Zhang, Yu Liang, Jing Huang, Shujie Zhang, Limei Huang, Shang Yi, Minpan Huang, Zailong Qin, Jingsi Luo
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27946- (2024)
Background: Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To
Externí odkaz:
https://doaj.org/article/d1b5d4d383504436a9974227e10905b8
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients. CMD2D is an autosomal recessive di
Externí odkaz:
https://doaj.org/article/4415fabeab54407e9db0c554fef68740
Autor:
Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental del
Externí odkaz:
https://doaj.org/article/e4c3e656efed4846a510f6d0dc4a7461
Autor:
Qi Yang, Qiang Zhang, Sheng Yi, Shujie Zhang, Shang Yi, Xunzhao Zhou, Zailong Qin, Biyan Chen, Jingsi Luo
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Kleefstra syndrome (KLEFS) refers to a rare inherited neurodevelopmental disorder characterized by intellectual disability (ID), language and motor delays, behavioral abnormalities, abnormal facial appearance, and other variable clinical features. KL
Externí odkaz:
https://doaj.org/article/c4612f9c4374459fa8993648021621d1
Autor:
Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi Luo
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23257- (2024)
The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and Asthenoter
Externí odkaz:
https://doaj.org/article/31b9db88cc26403f9d0f5c99ab031225