Works matching AU Chen, Jian-Min

Results: 145

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.

Published in:

2020

By:

Guéguen, Paul;
Dupuis, Arnaud;
Py, Jean‐Yves;
Desprès, Aurore;
Masson, Emmanuelle;
Le Marechal, Cédric;
Cooper, David N.;
Gachet, Christian;
Chen, Jian‐Min;
Férec, Claude;
Py, Jean-Yves;
Chen, Jian-Min

Publication type:

journal article

Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.

Published in:

2018

By:

Fichou, Yann;
Parchure, Disha;
Gogri, Harita;
Gopalkrishnan, Vidya;
Le Maréchal, Cédric;
Chen, Jian‐Min;
Férec, Claude;
Madkaikar, Manisha;
Ghosh, Kanjaksha;
Kulkarni, Swati;
Chen, Jian-Min

Publication type:

journal article

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/5485987

By:

Zhang, Elaine;
Zhao, Teresa;
Sikora, Tim;
Ellaway, Carolyn;
Gold, Wendy A.;
Van Bergen, Nicole J.;
Stroud, David A.;
Christodoulou, John;
Kaur, Simranpreet;
Chen, Jian-Min

Publication type:

Article

Discovery, phylogeny and expression patterns of AP2-like genes in maize.

Published in:

Plant Growth Regulation, 2010, v. 62, n. 1, p. 51, doi. 10.1007/s10725-010-9484-7

By:

Zhuang, Jing;
Deng, De-Xiang;
Yao, Quan-Hong;
Zhang, Jian;
Xiong, Fei;
Chen, Jian-Min;
Xiong, Ai-Sheng

Publication type:

Article

Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 228, doi. 10.1002/humu.24315

By:

Hamada, Shin;
Masson, Emmanuelle;
Chen, Jian‐Min;
Sakaguchi, Reiko;
Rebours, Vinciane;
Buscail, Louis;
Matsumoto, Ryotaro;
Tanaka, Yu;
Kikuta, Kazuhiro;
Kataoka, Fumiya;
Sasaki, Akira;
Le Rhun, Marc;
Audin, Hela;
Lachaux, Alain;
Caumont, Bernard;
Lorenzo, Diane;
Billiemaz, Kareen;
Besnard, Raphael;
Koch, Stéphane;
Lamireau, Thierry

Publication type:

Article

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.

Published in:

Human Mutation, 2021, v. 42, n. 4, p. 385, doi. 10.1002/humu.24178

By:

Masson, Emmanuelle;
Rebours, Vinciane;
Buscail, Louis;
Frete, Frédérique;
Pagenault, Mael;
Lachaux, Alain;
Chevaux, Jean‐Baptiste;
Génin, Emmanuelle;
Cooper, David N.;
Férec, Claude;
Chen, Jian‐Min

Publication type:

Article

The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 216, doi. 10.1002/humu.24153

By:

Masson, Emmanuelle;
Férec, Claude;
Chen, Jian‐Min

Publication type:

Article

5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1358, doi. 10.1002/humu.24029

By:

Lin, Jin‐Huan;
Masson, Emmanuelle;
Boulling, Arnaud;
Hayden, Matthew;
Cooper, David N.;
Férec, Claude;
Liao, Zhuan;
Chen, Jian‐Min

Publication type:

Article

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1660, doi. 10.1002/humu.23343

By:

Venet, Théa;
Masson, Emmanuelle;
Talbotec, Cécile;
Billiemaz, Kareen;
Touraine, Renaud;
Gay, Claire;
Destombe, Sylvie;
Cooper, David N.;
Patural, Hugues;
Chen, Jian-Min;
Férec, Claude

Publication type:

Article

No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 959, doi. 10.1002/humu.23254

By:

Wu, Hao;
Zhou, Dai‐Zhan;
Berki, Dorottya;
Geisz, Andrea;
Zou, Wen‐Bin;
Sun, Xiao‐Tian;
Hu, Liang‐Hao;
Zhao, Zhen‐Hua;
Zhao, An‐Jing;
He, Lin;
Cooper, David N.;
Férec, Claude;
Chen, Jian‐Min;
Li, Zhao‐Shen;
Sahin‐Tóth, Miklós;
Liao, Zhuan

Publication type:

Article

Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 1014, doi. 10.1002/humu.23269

By:

Boulling, Arnaud;
Masson, Emmanuelle;
Zou, Wen‐Bin;
Paliwal, Sumit;
Wu, Hao;
Issarapu, Prachand;
Bhaskar, Seema;
Génin, Emmanuelle;
Cooper, David N.;
Li, Zhao‐Shen;
Chandak, Giriraj R;
Liao, Zhuan;
Chen, Jian‐Min;
Férec, Claude

Publication type:

Article

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 43, doi. 10.1002/humu.23124

By:

Burin‐des‐Roziers, Cyril;
Rothschild, Pierre‐Raphael;
Layet, Valérie;
Chen, Jian‐Min;
Ghiotti, Tiffany;
Leroux, Céline;
Cremers, Frans P. M.;
Brézin, Antoine P.;
Valleix, Sophie

Publication type:

Article

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1149, doi. 10.1002/humu.23053

By:

Boulling, Arnaud;
Abrantes, Amandine;
Masson, Emmanuelle;
Cooper, David N.;
Robaszkiewicz, Michel;
Chen, Jian‐Min;
Férec, Claude

Publication type:

Article

A Mechanistic Link between L1 Retrotransposition and Chromothripsis.

Published in:

2016

By:

Chen, Jian‐Min;
Cooper, David N.

Publication type:

Other

Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights into the Action of Translesion Synthesis DNA Polymerases.

Published in:

Human Mutation, 2015, v. 36, n. 11, p. 1034, doi. 10.1002/humu.22831

By:

Chen, Jian‐Min;
Férec, Claude;
Cooper, David N.

Publication type:

Article

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 758, doi. 10.1002/humu.22815

By:

Su, Peiqiang;
Wang, Ye;
Cooper, David N.;
Zhu, Wenjuan;
Huang, Dongsheng;
Férec, Claude;
Wang, Yiming;
Chen, Jian‐Min

Publication type:

Article

Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion Ratio.

Published in:

Human Mutation, 2015, v. 36, n. 3, p. 333, doi. 10.1002/humu.22749

By:

Zhu, Wenjuan;
Cooper, David N.;
Zhao, Qiang;
Wang, Ye;
Liu, Ruihong;
Li, Qibin;
Férec, Claude;
Wang, Yiming;
Chen, Jian‐Min

Publication type:

Article

Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1393, doi. 10.1002/humu.22708

By:

Cornec‐Le Gall, Emilie;
Audrézet, Marie‐Pierre;
Le Meur, Yannick;
Chen, Jian‐Min;
Férec, Claude

Publication type:

Article

A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 392, doi. 10.1002/humu.22501

By:

Chen, Jian‐Min;
Cooper, David N.;
Férec, Claude

Publication type:

Article

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the DMD Gene.

Published in:

Human Mutation, 2013, v. 34, n. 8, p. 1080, doi. 10.1002/humu.22353

By:

Ishmukhametova, Aliya;
Chen, Jian‐Min;
Bernard, Rafaëlle;
Massy, Bernard;
Baudat, Frédéric;
Boyer, Amandine;
Méchin, Déborah;
Thorel, Delphine;
Chabrol, Brigitte;
Vincent, Marie‐Claire;
Khau Van Kien, Philippe;
Claustres, Mireille;
Tuffery‐Giraud, Sylvie

Publication type:

Article

Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease.

Published in:

Human Mutation, 2013, v. 34, n. 8, p. 1119, doi. 10.1002/humu.22341

By:

Chen, Jian‐Min;
Férec, Claude;
Cooper, David N.

Publication type:

Article

The first human mitotic nonallelic homologous recombination hotspot associated with genetic disease.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. v, doi. 10.1002/humu.22585

By:

Chen, Jian-Min

Publication type:

Article

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1239, doi. 10.1002/humu.22103

By:

Audrézet, Marie-Pierre;
Cornec-Le Gall, Emilie;
Chen, Jian-Min;
Redon, Sylvia;
Quéré, Isabelle;
Creff, Joelle;
Bénech, Caroline;
Maestri, Sandrine;
Le Meur, Yann;
Férec, Claude

Publication type:

Article

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1075, doi. 10.1002/humu.21557

By:

Cooper, David N.;
Bacolla, Albino;
Férec, Claude;
Vasquez, Karen M.;
Kehrer-Sawatzki, Hildegard;
Chen, Jian-Min

Publication type:

Article

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 631, doi. 10.1002/humu.21260

By:

Cooper, David N.;
Chen, Jian-Min;
Ball, Edward V.;
Howells, Katy;
Mort, Matthew;
Phillips, Andrew D.;
Chuzhanova, Nadia;
Krawczak, Michael;
Kehrer-Sawatzki, Hildegard;
Stenson, Peter D.

Publication type:

Article

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Published in:

Human Mutation, 2010, v. 31, n. 4, p. 421, doi. 10.1002/humu.21196

By:

Quemener, Sylvia;
Chen, Jian-Min;
Chuzhanova, Nadia;
Bénech, Caroline;
Casals, Teresa;
Macek, Milan;
Bienvenu, Thierry;
McDevitt, Trudi;
Farrell, Philip M.;
Loumi, Ourida;
Messaoud, Taieb;
Cuppens, Harry;
Cutting, Garry R.;
Stenson, Peter D.;
Giteau, Karine;
Audrézet, Marie-Pierre;
Cooper, David N.;
Férec, Claude

Publication type:

Article

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes.

Published in:

Human Mutation, 2009, v. 30, n. 10, p. 1435, doi. 10.1002/humu.21088

By:

Chen, Jian-Min;
Férec, Claude;
Cooper, David N.

Publication type:

Article

Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Published in:

Human Mutation, 2009, v. 30, n. 8, p. 1189, doi. 10.1002/humu.21020

By:

Chuzhanova, Nadia;
Chen, Jian-Min;
Bacolla, Albino;
Patrinos, George P.;
Férec, Claude;
Wells, Robert D.;
Cooper, David N.

Publication type:

Article

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.

Published in:

Human Mutation, 2007, v. 28, n. 12, p. 1198, doi. 10.1002/humu.20591

By:

Sheen, Campbell R.;
Jewell, Ursula R.;
Morris, Christine M.;
Brennan, Stephen O.;
Férec, Claude;
George, Peter M.;
Smith, Mark P.;
Chen, Jian-Min

Publication type:

Article

Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 469, doi. 10.1002/humu.20471

By:

Király, Orsolya;
Boulling, Arnaud;
Witt, Heiko;
Le Maréchal, Cédric;
Chen, Jian-Min;
Rosendahl, Jonas;
Battaggia, Cinzia;
Wartmann, Thomas;
Sahin-Tóth, Miklós;
Férec, Claude

Publication type:

Article

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 137, doi. 10.1002/humu.20449

By:

Miné, Manuèle;
Chen, Jian-Min;
Brivet, Michèle;
Desguerre, Isabelle;
Marchant, Dominique;
de Lonlay, Pascale;
Bernard, Aral;
Férec, Claude;
Abitbol, Marc;
Ricquier, Daniel;
Marsac, Cécile

Publication type:

Article

Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions.

Published in:

Human Mutation, 2005, v. 26, n. 4, p. 362, doi. 10.1002/humu.20230

By:

Chen, Jian-Min;
Chuzhanova, Nadia;
Stenson, Peter D.;
Férec, Claude;
Cooper, David N.

Publication type:

Article

Complex gene rearrangements caused by serial replication slippage.

Published in:

Human Mutation, 2005, v. 26, n. 2, p. 125, doi. 10.1002/humu.20202

By:

Chen, Jian-Min;
Chuzhanova, Nadia;
Stenson, Peter D.;
Férec, Claude;
Cooper, David N.

Publication type:

Article

Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 318, doi. 10.1002/humu.20150

By:

Chen, Jian-Min;
Chuzhanova, Nadia;
Stenson, Peter D.;
Férec, Claude;
Cooper, David N.

Publication type:

Article

Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 343, doi. 10.1002/humu.20009

By:

Audrézet, Marie-Pierre;
Chen, Jian-Min;
Raguénès, Odile;
Chuzhanova, Nadia;
Giteau, Karine;
Maréchal, Cédric Le;
Quéré, Isabelle;
Cooper, David N.;
Férec, Claude

Publication type:

Article

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER‐to‐Golgi Transport and Inducing ER Stress.

Published in:

Advanced Science, 2024, v. 11, n. 38, p. 1, doi. 10.1002/advs.202402550

By:

Wang, Min‐Jun;
Wang, Yuan‐Chen;
Masson, Emmanuelle;
Wang, Ya‐Hui;
Yu, Dong;
Qian, Yang‐Yang;
Tang, Xin‐Ying;
Deng, Shun‐Jiang;
Hu, Liang‐Hao;
Wang, Lei;
Wang, Li‐Juan;
Rebours, Vinciane;
Cooper, David N.;
Férec, Claude;
Li, Zhao‐Shen;
Chen, Jian‐Min;
Zou, Wen‐Bin;
Liao, Zhuan

Publication type:

Article

Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.

Published in:

Genes, 2021, v. 12, n. 11, p. 1683, doi. 10.3390/genes12111683

By:

Pu, Na;
Masson, Emmanuelle;
Cooper, David N.;
Génin, Emmanuelle;
Férec, Claude;
Chen, Jian-Min

Publication type:

Article

Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.

Published in:

Genes, 2021, v. 12, n. 5, p. 710, doi. 10.3390/genes12050710

By:

Aerts, Laetitia;
Terry, Nathalie A.;
Sainath, Nina N.;
Torres, Clarivet;
Martín, Martín G.;
Ramos-Molina, Bruno;
Creemers, John W.;
Chen, Jian-Min

Publication type:

Article

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.

Published in:

Genes, 2021, v. 12, n. 4, p. 471, doi. 10.3390/genes12040471

By:

Chen, Jian-Min;
Herzig, Anthony F.;
Génin, Emmanuelle;
Masson, Emmanuelle;
Cooper, David N.;
Férec, Claude

Publication type:

Article

Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses.

Published in:

Genes, 2020, v. 11, n. 11, p. 1349, doi. 10.3390/genes11111349

By:

Herzig, Anthony F.;
Génin, Emmanuelle;
Cooper, David N.;
Masson, Emmanuelle;
Férec, Claude;
Chen, Jian-Min

Publication type:

Article

Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1204, doi. 10.1038/sj.ejhg.5201684

By:

Masson, Emmanuelle;
Le Maréchal, Cédric;
Chen, Jian-Min;
Frebourg, Thierry;
Lerebours, Eric;
Férec, Claude

Publication type:

Article

'Gain of function' PRSS1 mutations are rare in ICP.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 108, doi. 10.1038/sj.ejhg.5200945

By:

Chen, Jian-Min;
Audrezet, Marie-Pierre;
Le Marechal, Cedric;
Ferec, Claude

Publication type:

Article

Molecular basis of hereditary pancreatitis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 473, doi. 10.1038/sj.ejhg.5200492

By:

Chen, Jian-Min;
Ferec, Claude

Publication type:

Article

Fine mapping of the qLOP2 and qPSR2- 1 loci associated with chilling stress tolerance of wild rice seedlings.

Published in:

Theoretical & Applied Genetics, 2015, v. 128, n. 1, p. 173, doi. 10.1007/s00122-014-2420-x

By:

Xiao, Ning;
Huang, Wei-nan;
Li, Ai-hong;
Gao, Yong;
Li, Yu-hong;
Pan, Cun-hong;
Ji, Hongjuan;
Zhang, Xiao-xiang;
Dai, Yi;
Dai, Zheng-yuan;
Chen, Jian-min

Publication type:

Article

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Published in:

Nature Genetics, 2013, v. 45, n. 10, p. 1216, doi. 10.1038/ng.2730

By:

Witt, Heiko;
Beer, Sebastian;
Rosendahl, Jonas;
Chen, Jian-Min;
Chandak, Giriraj Ratan;
Masamune, Atsushi;
Bence, Melinda;
Szmola, Richárd;
Oracz, Grzegorz;
Macek, Milan;
Bhatia, Eesh;
Steigenberger, Sandra;
Lasher, Denise;
Bühler, Florence;
Delaporte, Catherine;
Tebbing, Johanna;
Ludwig, Maren;
Pilsak, Claudia;
Saum, Karolin;
Bugert, Peter

Publication type:

Article

Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-025-00740-x

By:

Wang, Qi-Wen;
Zou, Wen-Bin;
Masson, Emmanuelle;
Férec, Claude;
Liao, Zhuan;
Chen, Jian-Min

Publication type:

Article

The 10-Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: Re-annotation and mutational mechanisms.

Published in:

Genes, Chromosomes & Cancer, 2008, v. 47, n. 6, p. 543, doi. 10.1002/gcc.20556

By:

Chen, Jian-Min

Publication type:

Article

Functional Analysis of Complex Structural and Splice‐Altering Variants in the ARSB Gene Towards the Personalized Antisense‐Based Therapy for Mucopolysaccharidosis Type VI Patients.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/2250030

By:

Bychkov, Igor;
Filatova, Alexandra;
Baydakova, Galina;
Sikora, Nataliya;
Garifullina, Emiliya;
Bykova, Anna;
Tabakov, Vyacheslav;
Skretnev, Alexandr;
Skoblov, Mikhail;
Zakharova, Ekaterina;
Chen, Jian-Min

Publication type:

Article

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6248437

By:

Balendran-Braun, Sukirthini;
Vinatzer, Ursula;
Liebmann-Reindl, Sandra;
Lux, Manuela;
Oliva, Petra;
Sansen, Stefaan;
Mechtler, Thomas;
Kasper, David C.;
Streubel, Berthold;
Chen, Jian-Min

Publication type:

Article

Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8444122

By:

Tian, Yongan;
Liu, Mengli;
Lu, Yu;
Zhao, Xiaoyan;
Yan, Zhiqiang;
Sun, Yi;
Ma, Jingyuan;
Tang, Wenxue;
Wang, Haili;
Xu, Hongen;
Chen, Jian-Min

Publication type:

Article