Výsledky vyhledávání - "Han Fang Tuan"

Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin

Autor: John R. Woollard, Han Fang Tuan, Yanhong Wu, Bing Q. Huang, Ming Li, Christopher J. Ward, Vicente E. Torres, Jason L. Bakeberg, Jan M. van Deursen, Marie C. Hogan, Peter C. Harris, Rachaneekorn Tammachote

Publikováno v: Journal of the American Society of Nephrology, 22, 2266-77
Journal of the American Society of Nephrology, 22, 12, pp. 2266-77

Item does not contain fulltext Mutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive polycystic kidney disease (ARPKD). Unfortunately, the lack of specific antibodies to the mouse protein impairs the study of splicing, pos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9403aa18e0edfff7463664410b03c78
https://doi.org/10.1681/asn.2010111173

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Preliminary neutron and ultrahigh-resolution X-ray diffraction studies of the aspartic proteinase endothiapepsin cocrystallized with agem-diol inhibitor

Autor: Leighton Coates, Han-Fang Tuan, Paul Langan, Peter T. Erskine, Jon B. Cooper

Publikováno v: Acta Crystallographica Section F Structural Biology and Crystallization Communications. 63:1080-1083

Endothiapepsin has been cocrystallized with the gem-diol inhibitor PD-135,040 in a low solvent-content (39%) unit cell, which is unprecedented for this enzyme-inhibitor complex and enables ultrahigh-resolution (1.0 A) X-ray diffraction data to be col

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1936b9927dda6c467ac0197a4b8f4875
https://doi.org/10.1107/s1744309107061283

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to its high genetic and clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f102260f4655a44c63f2b7bd26e6242e
https://europepmc.org/articles/PMC3945441/

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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Background Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An accurate molecular diagnosis can refine the clinical diagnosis and allow gene specif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f410a0efe7c0a0ec3200d2c67957da3
https://europepmc.org/articles/PMC3932025/

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Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

Autor: Li Zhao, Xia Wang, Ruifang Sui, Fei Xu, Yumei Li, Rui Chen, Huanan Ren, Jacques Zaneveld, Robert K. Koenekoop, Han-Fang Tuan, Vafa Keser, Irma Lopez, Hui Wang, Feng Wang, Keqing Wang, Jason S. Salvo, Qing Fu

Publikováno v: Investigative ophthalmologyvisual science. 54(6)

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. The prevalence of RP in China had been reported at 1 in 3800, resultin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff619182213ee159b69a552aaa9cbf7c
https://pubmed.ncbi.nlm.nih.gov/23661369

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Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

Autor: Cynthia J. Hommerding, Sandro Rossetti, Han Fang Tuan, Samih H. Nasr, Christopher J. Ward, Vicente E. Torres, Vladimir G. Gainullin, Peter C. Harris, Katharina Hopp

Publikováno v: The Journal of clinical investigation. 122(11)

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease in midlife. The phenotypic spectrum, however, ranges from in utero onset

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42c70f91474973ad4de2cfdbef54892
https://pubmed.ncbi.nlm.nih.gov/23064367

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Structural basis of ubiquitin recognition by translesion synthesis DNA polymerase ι

Autor: Robert C. Benirschke, Georges Mer, Han Fang Tuan, Nenad Juranić, Maria Victoria Botuyan, Slobodan Macura, Gaofeng Cui

Publikováno v: Biochemistry. 49(47)

Cells have evolved mutagenic bypass mechanisms that prevent stalling of the replication machinery at DNA lesions. This process, translesion DNA synthesis (TLS), involves switching from high-fidelity DNA polymerases to specialized DNA polymerases that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bca7377b8c550779e6bd4270c594c7
https://pubmed.ncbi.nlm.nih.gov/21049971

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The catalytic mechanism of an aspartic proteinase explored with neutron and X-ray diffraction

Autor: Leighton Coates, Stephen J. Tomanicek, Marat Mustyakimov, Han-Fang Tuan, Peter Erskine, Andrey Kovalevsky, Jon Cooper

Publikováno v: Journal of the American Chemical Society. 130(23)

Hydrogen atoms play key roles in enzyme mechanism, but as this study shows, even high-quality X-ray data to a resolution of 1 A cannot directly visualize them. Neutron diffraction, however, can locate deuterium atoms even at resolutions around 2 A. B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e0ca4116b384050cf81a44d67c2374
https://pubmed.ncbi.nlm.nih.gov/18479128

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