H
Han Xiang Deng
Researcher at Northwestern University
Publications - 109
Citations - 13064
Han Xiang Deng is an academic researcher from Northwestern University. The author has contributed to research in topics: Amyotrophic lateral sclerosis & SOD1. The author has an hindex of 41, co-authored 106 publications receiving 12178 citations. Previous affiliations of Han Xiang Deng include Fudan University & University of Chicago.
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Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool.
Han Xiang Deng,Koh-ichiro Yoshiura,Roeland W. Dirks,Roeland W. Dirks,Naoki Harada,Tetsuya Hirota,Kazuhiro Tsukamoto,Yoshihiro Jinno,N. Niikawa +8 more
TL;DR: This method allows us to identify not only structural chromosome abnormalities at the band level, but also the origin of cytogenetically unidentifiable marker chromosomes, which will also be useful in studies of evolutionary cytogenetics.
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Mutation analysis of hereditary multiple exostoses in the Chinese.
Lei Xu,Jiahui Xia,Hujun Jiang,Jiangnan Zhou,He Jun Li,Daping Wang,Qian Pan,Zhigao Long,Chaohong Fan,Han Xiang Deng +9 more
TL;DR: It is found that EXT1 seems much less common in the Chinese population, although the frequency of the EXT2 mutation is similar in the Caucasian and Chinese populations, which suggests a possibly different genetic spectrum of this disease in different populations.
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Distal axonopathy in an alsin-deficient mouse model
Han Xiang Deng,Hong Zhai,Ronggen Fu,Yong Shi,George Gorrie,Yi Yang,Erdong Liu,Mauro C. Dal Canto,Enrico Mugnaini,Teepu Siddique +9 more
TL;DR: The data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.
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Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
TL;DR: The hypothesis that a “gain of function” mechanism, possibly leading to increased intracellular calcium influx, underlies the pathogenesis of the TRPV4-linked axonal neuropathies is supported, and may have immediate implications for designing rational therapies.
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A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
Kourosh Rezania,Jianhua Yan,Lisa Dellefave,Han Xiang Deng,Nailah Siddique,Robert T. Pascuzzi,Teepu Siddique,Raymond P. Roos +7 more
TL;DR: Three members of a pedigree with familial amyotrophic lateral sclerosis who have a rare mutation in exon 4 of Cu/Zn superoxide dismutase (SOD1) codon position 89, converting alanine to valine are presented.