Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Valerie Sency"'
Autor:
Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade
Publikováno v:
JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)
Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with rela
Externí odkaz:
https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb
Autor:
Liting Li, Jian-She Wang, Ozlem Durmaz, Felipe Ordonez, Wikrom Karnsakul, Seema Alam, Cristina Targa Ferreira, Natural Course, Bettina E. Hansen, Kyung Mo Kim, Etienne Sokal, Ryan T. Fischer, Valerie Sency, Estella M. Alonso, Simon Horslen, Elisa de Carvalho, Piotr Czubkowski, Emanuele Nicastro, Nanda Kerkar, Dieter C. Broering, Björn Fischler, Dorothee Krebs-Schmitt, Kathleen M. Loomes, Dominique Debray, Marianne Hørby Jørgensen, Benjamin L. Shneider, Emmanuel Gonzales, Cigdem Arikan, Nathalie Rock, Antal Dezsőfi, Tassos Grammatikopoulos, Steffen Hartleif, Mara Cananzi, Talal Algoufi, Ronald J. Sokol, Jan B F Hulscher, Carolina Jimenez-Rivera, Emmanuel Jacquemin, Anne Spraul, Henkjan J. Verkade, Patryk Lipiński, Daan B E van Wessel, Nejat Mazhar, Maria Rogalidou, Deirdre Kelly, Alexandre Fabre, Daniele Serranti, Pier Luigi Calvo, Yael Mozer-Glassberg, Richard J. Thompson, Cristina Goncalves, Yumirle P. Turmelle, Jesus Quintero Bernabeu, Agustina Kadaristiana, Florence Lacaille, Loreto Hierro, Mohammad Shagrani, Patrick J. McKiernan, Girish S. Rao, Gema Muñoz Bartolo, Huey-Ling Chen, Wendy L. van der Woerd, Irena Jankowska, Amer Azaz, Philip J. Rosenthal, Frederick J. Suchy, Jernej Brecelj, Gabriella Nebbia, Noemie Laverdure, Henrik Arnell, Binita M. Kamath, Heng Wang
Publikováno v:
Hepatology
Hepatology, Wiley-Blackwell, 2021, 74 (2), pp.892-906. ⟨10.1002/hep.31787⟩
Hepatology, 74(2), 892-906. Wiley
Hepatology, Vol. 74, no. 2, p. 892-906 (2021)
Hepatology (Baltimore, Md.)
Hepatology, Wiley-Blackwell, 2021, 74 (2), pp.892-906. ⟨10.1002/hep.31787⟩
Hepatology, 74(2), 892-906. Wiley
Hepatology, Vol. 74, no. 2, p. 892-906 (2021)
Hepatology (Baltimore, Md.)
Mutations in ATP8B1 can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1 (PFIC1). The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural histor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ecc4ae32d84b425ddef55c91928639e
https://hal-amu.archives-ouvertes.fr/hal-03663238
https://hal-amu.archives-ouvertes.fr/hal-03663238
Autor:
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Rice, Clare L. van Eyk, Jozef Gecz, Jean K. Mah, Derek Atkinson, Heidi Cope, Jennifer A. Sullivan, Alon M. Douek, Daniel Colquhoun, Jason Henry, Donald Wlodkowic, Yesim Parman, Ayşe Candayan, Elif Kocasoy-Orhan, Anat Ilivitzki, Shiri Soudry, Rina Leibu, Fabian Glaser, Valerie Sency, Gil Ast, Vandana Shashi, Michael C. Fahey, Esra Battaloğlu, Albena Jordanova, Vardiella Meiner, A. Micheil Innes, Heng Wang, Orly Elpeleg, Michael C. Kruer, Jan Kaslin, Hagit Baris Feldman
Publikováno v:
Am J Hum Genet
The American journal of human genetics
The American journal of human genetics
Cell adhesion molecules are membrane-bound proteins predominantly expressed in the central nervous system along principal axonal pathways with key roles in nervous system development, neural cell differentiation and migration, axonal growth and guida
Autor:
Valerie Sency, Heng Wang, Michael C. Gundry, Baozhong Xin, Michael R. Stratton, Jonathan Mill, Ayala Tovy, Margaret A. Goodell, Carina Rosas, Mia Petljak, Aaron R. Jeffries, Anna Guzman, Lorenzo Brunetti, Hyun Jung Park, Jaime M. Reyes, Henry Lee-Six, Danielle Castillo, Emma L. Baple, Peter J. Campbell, Jeffrey N. Weitzel, Heather E. Machado, Andrew H. Crosby, Mathijs A. Sanders, Wei Li
Publikováno v:
Cell Stem Cell, 27(2), 326-+. Cell Press
DNA methyltransferase 3A (DNMT3A) is the most commonly mutated gene in clonal hematopoiesis (CH). Somatic DNMT3A mutations arise in hematopoietic stem cells (HSCs) many years before malignancies develop, but difficulties in comparing their impact bef
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87e06b3a9aec27ff44dc6cc6b7fd6c7
http://hdl.handle.net/11391/1475148
http://hdl.handle.net/11391/1475148
Autor:
M. Barabas, T. Cruz Marino, J. Szekely, C. Wensel, Valerie Sency, Josianne Leblanc, Heng Wang, V. Therriault, Baozhong Xin, K. Cechner
Publikováno v:
Clinical Genetics. 91:623-628
Tatton-Brown-Rahman syndrome (TBRS) was recently described in 13 isolated cases with de novo mutations in the DNMT3A gene. This autosomal dominant condition is characterized by tall stature, intellectual disability and a distinctive facial appearance
Publikováno v:
Clinical Genetics. 89:625-629
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GSD) causes a complete absence of GM3 and all downstream biosynthetic derivatives. The individuals affected by this disorder manifest seve
Autor:
Angela Rowan, Karen Cechner, Baozhong Xin, Max Wiznitzer, Qianyang Huang, Andi Wang, Paul McJarrow, Danting Liu, Julia Szekely, Heng Wang, Valerie Sency, Aimin Zhou, Alicia Bright, JoAnn Brace
Publikováno v:
JIMD Reports ISBN: 9783662586464
Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GM3D) causes an absence of GM3 and all downstream biosynthetic derivatives. The affected individuals manifest with severe irritability, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621b332bd4d8c76576f3909b510df700
https://doi.org/10.1007/8904_2018_134
https://doi.org/10.1007/8904_2018_134
Autor:
Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade
Publikováno v:
JHEP Reports, 5(2):100626. Elsevier
JHEP reports : innovation in hepatology, 5(2):100626. Elsevier
Scientia
JHEP Reports, Vol. 5, no.2, p. 100626 (2023)
JHEP reports : innovation in hepatology, 5(2):100626. Elsevier
Scientia
JHEP Reports, Vol. 5, no.2, p. 100626 (2023)
Compound heterozygosity; Genotype; Phenotype Heterocigosidad compuesta; Genotipo; Fenotipo Heterozigositat composta; Genotip; Fenotip Background & Aims Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a9a4bf0cbb88ad99b95105970a79be1
https://pure.eur.nl/en/publications/48dc60fd-d2f3-4015-b5b3-25d845d0ca1a
https://pure.eur.nl/en/publications/48dc60fd-d2f3-4015-b5b3-25d845d0ca1a
Autor:
Liu, Zhigang, Xin, Baozhong, Smith, Iris N, Sency, Valerie, Szekely, Julia, Alkelai, Anna, Shuldiner, Alan, Efthymiou, Stephanie, Rajabi, Farrah, Coury, Stephanie, Brownstein, Catherine A, Rudnik-Schöneborn, Sabine, Bruel, Ange-Line, Thevenon, Julien, Zeidler, Shimriet, Jayakar, Parul, Schmidt, Axel, Cremer, Kirsten, Engels, Hartmut, Peters, Sophia O
Publikováno v:
Human Molecular Genetics; 10/15/2023, Vol. 32 Issue 20, p2981-2995, 15p
Publikováno v:
Genomics & Genetics Weekly; 9/22/2023, p384-384, 1p