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Journal of Human Genetics (6)
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Showing 1–13 of 13 results

Advanced filters: Author: Xueshan Xiao Clear advanced filters

SLC6A6 imports taurine into mitochondria to sustain mitochondrial translation and tumour growth

SLC6A6 localizes to the inner mitochondrial membrane and mediates mitochondrial taurine import, which sustains mitochondrial tRNA modifications and cell growth.

Liucheng Li
Jianwei You
Fuming Li
Research06 Feb 2026
Nature Metabolism

P: 1-18
Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia

Here, the authors identify a form of central iris hypoplasia affecting the pupillary zone. They suggest that noncoding structural variations can lead to Mendelian diseases by disrupting the 3D genome structure and resulting in altered gene expression.

Wenmin Sun
Dan Xiong
Qingjiong Zhang
ResearchOpen Access13 Jun 2024
Nature Communications

Volume: 15, P: 1-14
Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

Lin Li
Xueshan Xiao
Qingjiong Zhang
Research23 Aug 2012
Journal of Human Genetics

Volume: 57, P: 756-759
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration

Zhen Yi
Shiqiang Li
Qingjiong Zhang
Research26 Nov 2021
Eye

Volume: 36, P: 2279-2285
Research on train wheel point cloud registration algorithm based on key points by fusing Super-4PCS and ICP

Qian Xiao
Xueshan Gao
Kaizhi Shi
ResearchOpen Access01 Sept 2025
Scientific Reports

Volume: 15, P: 1-16
Fatigue damage assessment of bogie frame based on an improved nonlinear cumulative damage model

Qian Xiao
Mingkang Zhang
Xueshan Gao
ResearchOpen Access13 Oct 2025
Scientific Reports

Volume: 15, P: 1-15
CSNB1 in Chinese families associated with novel mutations in NYX

Xueshan Xiao
Xiaoyun Jia
Qingjiong Zhang
Research01 Jul 2006
Journal of Human Genetics

Volume: 51, P: 634-640
Energy-efficient train timetable optimization for tram system under multi-signal priority strategies

Jing He
Fengyuan Wang
Jian Yang
ResearchOpen Access08 Mar 2025
Scientific Reports

Volume: 15, P: 1-20
Linkage analysis of two families with X-linked recessive congenital motor nystagmus

Xiangming Guo
Shiqiang Li
Qingjiong Zhang
Research01 Jan 2006
Journal of Human Genetics

Volume: 51, P: 76-80
Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

Xiaoyun Jia
Shiqiang Li
Qingjiong Zhang
Research01 Oct 2006
Journal of Human Genetics

Volume: 51, P: 851-856
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

Xiangming Guo
Huangxuan Shen
Qingjiong Zhang
Research01 Aug 2006
Journal of Human Genetics

Volume: 51, P: 695-700
Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1

Qingjiong Zhang
Shiqiang Li
Xiangming Guo
Research10 Mar 2007
Journal of Human Genetics

Volume: 52, P: 469-472
ω-6 Polyunsaturated fatty acids (linoleic acid) activate both autophagy and antioxidation in a synergistic feedback loop via TOR-dependent and TOR-independent signaling pathways

Bo Yang
Yan Zhou
Qinghui Ai
ResearchOpen Access30 Jul 2020
Cell Death & Disease

Volume: 11, P: 1-19