Ultra-rare variants in the TRPV6 gene cause autosomal dominant chronic pancreatitis

被引：0

作者：

Masson, E. ^{[1
,2
]}

Chen, J. M. ^{[1
]}

Rebours, V. ^{[3
,4
]}

Le Rhun, M. ^{[5
]}

Audin, H. ^{[6
]}

Lachaux, A. ^{[7
]}

Caumont, B. ^{[8
]}

Lorenzo, D. ^{[3
,4
]}

Fron, M. ^{[9
]}

Billiemaz, K. ^{[10
]}

Besnard, R. ^{[11
]}

Buscail, L. ^{[12
]}

Ferec, C. ^{[1
]}

机构：

[1] Univ Brest, INSERM, GGB, EFS,UMR 1078, Brest, France

[2] CHRU Brest Serv, Serv Genet Med & Biol Reprod, Brest, France

[3] Beaujon Hosp, AP HP, Dept Gastroenterol & Pancreatol, Clichy, France

[4] Paris Diderot Univ, Paris, France

[5] CHU Nantes, Serv Hepatogastroenterol Cancerol Digest & Assist, Nantes, France

[6] CH Gabriel Martin, Med Chauvet Orientat Gastroenterol, St Paul, France

[7] HCL, Serv Gastroenterol Hepatol & Nutr Pediat, Bron, France

[8] CH Sud Gironde, Serv Med Orientat Hepatogastroenterol, Langon, France

[9] CHD Vendee, Serv Hepatogastroenterol, La Roche Sur Yon, France

[10] CHU St Etienne, Serv Pediat, St Etienne, France

[11] CHR Orleans, Serv Hepatogastroenterol & Oncol Digest, Orleans, France

[12] CHU Toulouse, Serv Gastroenterol & Pancreatol, Toulouse, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P03.10.A

引用

页码：209 / 210

页数：2

共 36 条

[1] Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis
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, Stephane
Lamireau, Thierry
De Koninck, Xavier
Genin, Emmanuelle
Cooper, David N.
Mori, Yasuo
Masamune, Atsushi
Ferec, Claude
HUMAN MUTATION, 2022, 43 (02) : 228 - 239
[2] Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early -Onset Chronic Pancreatitis
Masamune, Atsushi
Kotani, Hiroshi
Soergel, Franziska Lena
Chen, Jian-Min
Hamada, Shin
Sakaguchi, Reiko
Masson, Emmanuelle
Nakano, Eriko
Kakuta, Yoichi
Niihori, Tetsuya
Funayama, Ryo
Shirota, Matsuyuki
Hirano, Tatsuya
Kawamoto, Tetsuya
Hosokoshi, Atsuki
Kume, Kiyoshi
Unger, Lara
Ewers, Maren
Laumen, Helmut
Bugert, Peter
Mori, Masayuki X.
Tsvilovskyy, Volodymyr
Weissgerber, Petra
Kriebs, Ulrich
Fecher-Trost, Claudia
Freichel, Marc
Diakopoulos, Kalliope N.
Berninger, Alexandra
Lesina, Marina
Ishii, Kentaro
Itoi, Takao
Ikeura, Tsukasa
Okazaki, Kazuichi
Kaune, Tom
Rosendahl, Jonas
Nagasaki, Masao
Uezono, Yasuhito
Alguel, Hana
Nakayama, Keiko
Matsubara, Yoichi
Aoki, Yoko
Ferec, Claude
Mori, Yasuo
Witt, Heiko
Shimosegawa, Tooru
GASTROENTEROLOGY, 2020, 158 (06) : 1626 - +
[3] Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients
Oracz, Grzegorz
Zarod, Michal
Ewers, Maren
Laumen, Helmut
Gambin, Tomasz
Kaminski, Pawel
Grabowska, Iwona
Drozak, Anna
Kwiatkowski, Sebastian
Wertheim-Tysarowska, Katarzyna
Kolodziejczyk, Elwira
Domaszewicz, Alicja
Dorozko, Barbara
Kosinska, Joanna
Gluszek, Stanislaw
Koziel, Dorota
Ploski, Rafal
Rosendahl, Jonas
Witt, Heiko
Drozak, Jakub
Rygiel, Agnieszka Magdalena
PANCREATOLOGY, 2021, 21 (08) : 1434 - 1442
[4] The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis
Hirai, Saeko
Suzuki, Mitsuyoshi
Sakurai, Yumiko
Nakano, Satoshi
Minowa, Kei
Eguchi, Hidetake
Okazaki, Yasushi
Shimizu, Toshiaki
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2023, 76 (04): : 483 - 488
[5] Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
Nicolas, Gael
Acuna-Hidalgo, Rocio
Keogh, Michael J.
Quenez, Olivier
Steehouwer, Marloes
Lelieveld, Stefan
Rousseau, Stephane
Richard, Anne-Claire
Oud, Manon S.
Marguet, Florent
Laquerriere, Annie
Morris, Chris M.
Attems, Johannes
Smith, Colin
Ansorge, Olaf
Al Sarraj, Safa
Frebourg, Thierry
Campion, Dominique
Hannequin, Didier
Wallon, David
Gilissen, Christian
Chinnery, Patrick F.
Veltman, Joris A.
Hoischen, Alexander
ALZHEIMERS & DEMENTIA, 2018, 14 (12) : 1632 - 1639
[6] Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population
Junyu Lin
Chunyu Li
Yiyuan Cui
Yanbing Hou
Lingyu Zhang
Ruwei Ou
Qianqian Wei
Kuncheng Liu
Tianmi Yang
Yi Xiao
Qirui Jiang
Bi Zhao
Jing Yang
Xueping Chen
Huifang Shang
Journal of Neurology, 2023, 270 : 2197 - 2203
[7] Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population
Lin, Junyu
Li, Chunyu
Cui, Yiyuan
Hou, Yanbing
Zhang, Lingyu
Ou, Ruwei
Wei, Qianqian
Liu, Kuncheng
Yang, Tianmi
Xiao, Yi
Jiang, Qirui
Zhao, Bi
Yang, Jing
Chen, Xueping
Shang, Huifang
JOURNAL OF NEUROLOGY, 2023, 270 (04) : 2197 - 2203
[8] TRPV6variants confer susceptibility to chronic pancreatitis in the Chinese population
Zou, Wen-Bin
Wang, Yuan-Chen
Ren, Xin-Lu
Wang, Lei
Deng, Shun-Jiang
Mao, Xiao-Tong
Li, Zhao-Shen
Liao, Zhuan
HUMAN MUTATION, 2020, 41 (08) : 1351 - 1357
[9] Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma
Liu, Chenmei
Han, Chunlei
Liang, Jingyao
Yang, Chao
Wang, Youyi
Chen, Pingjiao
Chen, Hongyu
Lu, Hongyan
Cai, Yan
Wang, Qi
Zhang, Xibao
Zeng, Kang
Li, Changxing
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (07) : 1313 - 1317.e8
[10] Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models
Neri, Irene
Ramazzotti, Giulia
Mongiorgi, Sara
Rusciano, Isabella
Bugiani, Marianna
Conti, Luciano
Cousin, Margot
Giorgio, Elisa
Padiath, Quasar S. S.
Vaula, Giovanna
Cortelli, Pietro
Manzoli, Lucia
Ratti, Stefano
MOLECULAR NEUROBIOLOGY, 2023, 60 (11) : 6362 - 6372

← 1 2 3 4 →