Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Shun-Jiang Deng"'
Autor:
Min‐Jun Wang, Yuan‐Chen Wang, Emmanuelle Masson, Ya‐Hui Wang, Dong Yu, Yang‐Yang Qian, Xin‐Ying Tang, Shun‐Jiang Deng, Liang‐Hao Hu, Lei Wang, Li‐Juan Wang, Vinciane Rebours, David N. Cooper, Claude Férec, Zhao‐Shen Li, Jian‐Min Chen, Wen‐Bin Zou, Zhuan Liao
Publikováno v:
Advanced Science, Vol 11, Iss 38, Pp n/a-n/a (2024)
Abstract Chronic pancreatitis (CP) is a complex disease with genetic and environmental factors at play. Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese teenage CP patient is identified. Subsequent targeted next‐gener
Externí odkaz:
https://doaj.org/article/c5f4c65631754818979730d06240b965
Autor:
Xiao-Tong Mao, MD, Wen-Bin Zou, MD, Yu Cao, MD, Yuan-Chen Wang, BM, Shun-Jiang Deng, BM, David N. Cooper, PhD, Claude Férec, MD, PhD, Zhao-Shen Li, MD, Jian-Min Chen, MD, PhD, Zhuan Liao, MD
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 14, Iss 1, Pp 55-74 (2022)
Background & Aims: A hybrid allele that originated from homologous recombination between CEL and its pseudogene (CELP), CEL-HYB1 increases the risk of chronic pancreatitis (CP). Although suggested to cause digestive enzyme misfolding, definitive in v
Externí odkaz:
https://doaj.org/article/8c808e6aa23e4bab961e489f6922796e
Autor:
Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen
Publikováno v:
Human Genomics, Vol 13, Iss 1, Pp 1-11 (2019)
Abstract Background The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of thi
Externí odkaz:
https://doaj.org/article/d2097150466a4c6ebdcaafd6c1eac56c
Autor:
Markus M. Lerch, Emmanuelle Masson, Joost P.H. Drenth, Peter Bugert, Jian-Min Chen, Wen Bin Zou, Marko Damm, Matthias Sendler, Jonas Rosendahl, Heidi Griesmann, Holger Kirsten, Claudia Ruffert, Ewa Małecka-Panas, Markus Scholz, Nico Hesselbarth, Tom Kaune, Rene H. M. te Morsche, Péter Hegyi, Stanisław Głuszek, Zhuan Liao, Julian Cardinal von Widdern, Heiko Witt, Raffaella Alessia Zuppardo, Robert Grützmann, Louis Buscail, Sebastian Krug, Shun Jiang Deng, Frank Ulrich Weiss, Vinciane Rebours, Giulia Martina Cavestro, Claude Férec, Adrian Saftoiu, Patrick Michl
Publikováno v:
Pancreatology, 20, 1262-1267
Pancreatology, 20, 7, pp. 1262-1267
Pancreatology, 20, 7, pp. 1262-1267
Contains fulltext : 229360.pdf (Publisher’s version ) (Closed access) BACKGROUND: The G-protein-coupled receptor Class C Group 6 Member A (GPRC6A) is activated by multiple ligands and is important for the regulation of calcium homeostasis. Extracel
Autor:
Wen‐Bin Zou, Yuan‐Chen Wang, Xin‐Lu Ren, Lei Wang, Shun‐Jiang Deng, Xiao‐Tong Mao, Zhao‐Shen Li, Zhuan Liao
Publikováno v:
Human Mutation. 41
Autor:
Wen-Bin Zou, Xiao-Tong Mao, Zhuan Liao, Lei Wang, Shun-Jiang Deng, Yuan-Chen Wang, Zhao-Shen Li, Xin‐Lu Ren
Publikováno v:
Human mutationREFERENCES. 41(8)
Chronic pancreatitis (CP) is a progressive fibroinflammatory syndrome of the pancreatic tissue caused by genetic and environmental factors. Previously reported susceptibility genes in CP explain less than half of the apparent heritability. To uncover
Autor:
Matthew Mort, Gérald Le Gac, Jin-Huan Lin, Shun-Jiang Deng, Chandran Ka, David N. Cooper, Wen-Bin Zou, Yann Fichou, Arnaud Boulling, Emmanuelle Masson, Jian-Min Chen, Isabelle Berlivet, Matthew J. Hayden, Zhuan Liao, Xin-Ying Tang, Loann Raud, Raphaël Leman, Marlène Le Tertre, Zhao-Shen Li, Claude Férec, Claude Houdayer
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩
International audience; It has long been known that canonical 5' splice site (5'SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5'SSs capable of generating wild-type transcripts in the case o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fc6fdcd950314e38c8b1e213f1124
https://hal.inrae.fr/hal-02947010
https://hal.inrae.fr/hal-02947010
Autor:
Zhuan Liao, Claude Férec, David Neil Cooper, Jin-Huan Lin, Emmanuelle Masson, Arnaud Boulling, Zhao-Shen Li, Xin-Ying Tang, Jian-Min Chen, Shun-Jiang Deng, Wen-Bin Zou
Publikováno v:
Human Genomics
Human Genomics, Vol 13, Iss 1, Pp 1-11 (2019)
Human Genomics, BioMed Central, 2019, 13 (1), pp.785-786. ⟨10.1186/s40246-019-0193-7⟩
Human Genomics, BioMed Central, 2019, 13 (1), ⟨10.1186/s40246-019-0193-7⟩
Human Genomics, Vol 13, Iss 1, Pp 1-11 (2019)
Human Genomics, BioMed Central, 2019, 13 (1), pp.785-786. ⟨10.1186/s40246-019-0193-7⟩
Human Genomics, BioMed Central, 2019, 13 (1), ⟨10.1186/s40246-019-0193-7⟩
Background The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. A close correlation between the results of this assay a
Autor:
Tang, Xin-Ying, Lin, Jin-Huan, Zou, Wen-Bin, Masson, Emmanuelle, Boulling, Arnaud, Shun-Jiang Deng, Cooper, David, Zhuan Liao, Férec, Claude, Zhao-Shen Li, Chen, Jian-Min
Figure S1. Alamut-predicted impact on splice site selection of the three recently reported SPINK1 spice site variants. Figure S2. Presence of the c.88-1G > A (chr5:g.147207692C > T) in cis with a closely spaced variant, c.88-7 T > A (chr5:g.147207698
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0721cee6c6a9af1c208fae04b8446b7d
Autor:
Matthew J. Hayden, Shun-Jiang Deng, Claude Férec, Gérald Le Gac, Xin-Ying Tang, Zhuan Liao, Loann Raud, Isabelle Berlivet, David N. Cooper, Marlène Le Tertre, Chandran Ka, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Jin-Huan Lin, Zhao-Shen Li, Matthew Mort, Arnaud Boulling, Jian-Min Chen
It has long been known that canonical 5’ splice site (5’SS) GT>GC mutations may be compatible with normal splicing. However, to date, the true scale of canonical 5’SS GT>GC mutations generating wild-type transcripts, both in the context of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dddfcc21f0a28f7b2f9f239dbab665a
https://doi.org/10.1101/479493
https://doi.org/10.1101/479493