المؤلفون: Jan Stindt, Carola Dröge, Elke Lainka, Simone Kathemann, Eva-Doreen Pfister, Ulrich Baumann, Amelie Stalke, Enke Grabhorn, Mohammad Ali Shagrani, Yael Mozer-Glassberg, Jane Hartley, Marianne Wammers, Caroline Klindt, Paulina Philippski, Roman Liebe, Diran Herebian, Ertan Mayatepek, Thomas Berg, Anjona Schmidt-Choudhury, Constanze Wiek, Helmut Hanenberg, Tom Luedde, Verena Keitel

المصدر: JHEP Reports, Vol 5, Iss 7, Pp 100690- (2023)

مصطلحات موضوعية: AIBD, Progressive familial intrahepatic cholestasis type 2, Non-invasive diagnostic test, Anti-BSEP antibody, Liver transplantation, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555923000216; https://doaj.org/toc/2589-5559

URL الوصول: https://doaj.org/article/e0f0ced14a1a400c90fd20022215385d

المؤلفون: Felzen, Antonia, van Wessel, Daan B E, Gonzales, Emmanuel, Thompson, Richard J, Jankowska, Irena, Shneider, Benjamin L, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B F, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J, Kamath, Binita M, Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M, Sokol, Ronald J, Suchy, Frederick J, Loomes, Kathleen M, McKiernan, Patrick J, Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A, Wang, Kasper, Hansen, Bettina E, Verkade, Henkjan J, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium

المصدر: ISSN: 2589-5559 ; JHEP reports, vol. 5, no. 2 (2023) 100626.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, ABCB11, ATP-binding cassette, sub-family B member 11, ALT, alanine aminotransferase, AST, aspartate aminotransferase, BSEP, bile salt export pump, ChiLDReN, Childhood Liver Disease Research Network, GGT, gamma-glutamyltransferase, HCC, hepatocellular carcinoma, LTx, liver transplantation, NAPPED, NAtural course and Prognosis of PFIC and Effect of biliary Diversion, NLS, native liver survival, PFIC2, progressive familial intrahepatic cholestasis type 2, PPTM, predicted protein truncating mutation, REDCap, Research Electronic Data Capture, TSB, total serum bilirubin

Relation: info:eu-repo/semantics/altIdentifier/pmid/36687469; https://archive-ouverte.unige.ch/unige:173863; unige:173863

الاتاحة: https://archive-ouverte.unige.ch/unige:173863

المؤلفون: Hinglaj Saha, Ghosh Tapanjyoti, Somak Biswas, Prafulla Kumar Mishra, Kalyani Saha Basu, Uttara Chatterjee

المصدر: Journal of Indian Association of Pediatric Surgeons, Vol 24, Iss 1, Pp 75-77 (2019)

مصطلحات موضوعية: Cholecystojejunocolonic anastomosis, progressive familial intrahepatic cholestasis type 2, primary therapy, Pediatrics, RJ1-570, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://www.jiaps.com/article.asp?issn=0971-9261;year=2019;volume=24;issue=1;spage=75;epage=77;aulast=Saha; https://doaj.org/toc/0971-9261; https://doaj.org/toc/1998-3891

URL الوصول: https://doaj.org/article/b6497afce4d14a88909a9fdf60c271e9

المؤلفون: Vitale Giovanni, Simonetti Giulia, Pirillo Martina, Taruschio Gianfranco, Andreone Pietro

المساهمون: Vitale, Giovanni, Simonetti, Giulia, Pirillo, Martina, Taruschio, Gianfranco, Andreone, Pietro

مصطلحات موضوعية: Bipolar and related disorder, Progressive familial intrahepatic cholestasis type 2, Sodium 4-phenylbutyrate, Psychiatry and Mental Health, Biological Psychiatry

Relation: info:eu-repo/semantics/altIdentifier/pmid/27757140; info:eu-repo/semantics/altIdentifier/wos/WOS:000384842300017; volume:13; issue:5; firstpage:580; lastpage:582; numberofpages:3; journal:PSYCHIATRY INVESTIGATION; http://hdl.handle.net/11380/1237199; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991517798; http://www.psychiatryinvestigation.org/html/pdfdown.asp?pn=0502016082

الاتاحة: http://hdl.handle.net/11380/1237199
https://doi.org/10.4306/pi.2016.13.5.580
http://www.psychiatryinvestigation.org/html/pdfdown.asp?pn=0502016082

المؤلفون: Amzal, Rachida

Thesis Advisors: Paris Saclay, Gonzales, Emmanuel

مصطلحات موضوعية: Drogues chaperones, Mutations non sens, Transporteur des sels biliaires (BSEP), Mutations faux sens, 4-Phénylbutyrate, Chaperone drugs, Missense mutations, Progressive familial intrahepatic cholestasis type 2, Non-Sense mutations

الاتاحة: http://www.theses.fr/2019SACLS187

المؤلفون: Masashi Kawami, Mikihisa Takano, Ryoko Yumoto, 川見 昌史, 湯元 良子, 高野 幹久

المصدر: 膜 / MEMBRANE. 2015, 40(1):21

المؤلفون: Amzal, Rachida

المساهمون: STAR, ABES, Intéractions cellulaires et physiopathologie hépathique (Orsay, Essonne) UMRS 1174 (ICPH ), Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Saclay (COmUE), Emmanuel Gonzales

المصدر: Biologie moléculaire. Université Paris Saclay (COmUE), 2019. Français. ⟨NNT : 2019SACLS187⟩

مصطلحات موضوعية: Mutations faux sens, 4-Phénylbutyrate, Non-Sense mutations, Missense mutations, Drogues chaperones, Chaperone drugs, Progressive familial intrahepatic cholestasis type 2, Mutations non sens, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Transporteur des sels biliaires (BSEP), [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BC] Life Sciences [q-bio]/Cellular Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::62794e321f73466115946cba2f398be6
https://theses.hal.science/tel-03275309

المؤلفون: Amzal, Rachida

المساهمون: Université Paris-Saclay (ComUE), Gonzales, Emmanuel

مصطلحات موضوعية: Drogues chaperones, Mutations non sens, Transporteur des sels biliaires (BSEP), Mutations faux sens, 4-Phénylbutyrate, Chaperone drugs, Missense mutations, Progressive familial intrahepatic cholestasis type 2, Non-Sense mutations

Relation: http://www.theses.fr/2019SACLS187/document

الاتاحة: http://www.theses.fr/2019SACLS187/document

المؤلفون: Amzal, Rachida

المساهمون: Intéractions cellulaires et physiopathologie hépathique (Orsay, Essonne) UMRS 1174 (ICPH ), Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Saclay (COmUE), Emmanuel Gonzales

المصدر: https://tel.archives-ouvertes.fr/tel-03275309 ; Biologie moléculaire. Université Paris Saclay (COmUE), 2019. Français. ⟨NNT : 2019SACLS187⟩.

مصطلحات موضوعية: Chaperone drugs, 4-Phénylbutyrate, Missense mutations, Progressive familial intrahepatic cholestasis type 2, Non-Sense mutations, Drogues chaperones, Mutations non sens, Transporteur des sels biliaires (BSEP), Mutations faux sens, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology

Relation: NNT: 2019SACLS187; tel-03275309; https://tel.archives-ouvertes.fr/tel-03275309; https://tel.archives-ouvertes.fr/tel-03275309/document; https://tel.archives-ouvertes.fr/tel-03275309/file/77712_AMZAL_2019_archivage.pdf

الاتاحة: https://tel.archives-ouvertes.fr/tel-03275309
https://tel.archives-ouvertes.fr/tel-03275309/document
https://tel.archives-ouvertes.fr/tel-03275309/file/77712_AMZAL_2019_archivage.pdf

المؤلفون: Giulia Simonetti, Giovanni Vitale, Martina Pirillo, Pietro Andreone, G. Taruschio

المساهمون: Vitale, Giovanni, Simonetti, Giulia, Pirillo, Martina, Taruschio, Gianfranco, Andreone, Pietro

المصدر: Psychiatry Investigation

مصطلحات موضوعية: 0301 basic medicine, Drug, medicine.medical_specialty, Bipolar and related disorders, medicine.medical_treatment, media_common.quotation_subject, Case Report, Late onset, Liver transplantation, Bipolar and related disorder, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Sodium 4-phenylbutyrate, Internal medicine, Medicine, Biological Psychiatry, media_common, business.industry, Progressive familial intrahepatic cholestasis, medicine.disease, Bile Salt Export Pump, Psychiatry and Mental health, 030104 developmental biology, Psychiatry and Mental Health, Hepatocellular carcinoma, Progressive familial intrahepatic cholestasis type 2, Portal hypertension, 030211 gastroenterology & hepatology, Progressive Familial Intrahepatic Cholestasis type 2, business, Rare disease

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be110aeca798330323383951f6058272
https://hdl.handle.net/11380/1237199

المؤلفون: Anna, Baghdasaryan, Peter, Chiba, Michael, Trauner

المصدر: Molecular Aspects of Medicine

مصطلحات موضوعية: PGC-1α, peroxisome proliferator-activated receptor gamma coactivator-1 alpha, FXR, farnesoid X receptor (NR1H4), HNF4α, hepatocyte nuclear factor 4 alpha, CARM1, co-activator-associated arginine methyltransferase 1, OATP, organic anion transporting polypeptide, VDR (NR1I1), vitamin D receptor, Review, BCRP (ABCG2), breast cancer resistance protein, NDRG2, NMYC downstrean-regulated gene 2, MRP4 (ABCC4), multidrug resistance-associated protein 4, SRC2, steroid receptor co-activator 2, GGT, gamma-glutamyl transpeptidase, MDR1 (ABCB1), multidrug resistance protein 1, Nuclear receptors, GRE, glucocorticoid response element, CtBP, C-terminal binding protein, GCA, glycocholic acid, TβMCA, β-tauromuricholic acid, TNF-α, tumor necrosis factor alpha, ATB-binding cassette transporters, FGF19/FGF15, fibroblast growth factor 19/15, MARE, MAF recognition element, ATP Binding Cassette Transporter, Subfamily B, Member 11, TCDCA, taurochenodeoxycholic acid, CA, cholic acid, Cholestasis, ASBT (SLC10A2), apical sodium-dependent bile acid transporter, Symporters, AE2 (SLC4A2), anion exchanger 2, ABC, ATP-binding cassette, FXRE, FXR response element, cAMP, cyclic adenosine monophosphate, DILI, drug-induced liver injury, IL-6, interleukin 6, PL, phospholipid, TGR5, G protein coupled bile acid receptor, OCA, obeticholic acid, OSTα/OSTβ (SLC51A/SLC51B), organic solute transporter alpha/beta, LRH1 (NR5A2), liver receptor homologue 1, JNK, c-Jun N-terminal kinase, NRF2, nuclear factor erythroid 2-related factor 2, LPS, lipopolysaccharide, BRIC2, benign recurrent intrahepatic cholestasis type 2, LXR (NR1H3), liver X receptor, Transcriptional Activation, PFIC2, progressive familial intrahepatic cholestasis type 2, PXR (NR1I2), pregnane X receptor, TCA, taurocholic acid, RXRα (NR2B1), retinoid X receptor, Organic Anion Transporters, Sodium-Dependent, CCl4, carbone tetrachloride, UDCA, ursodeoxycholic acid, Bile Acids and Salts, CDCA, chenodeoxycholic acid, STAT-5, signal transducer and activator of transcription 5, LCA, litocholic acid, ALT, alanine aminotransferase, CBDL, common bile duct ligation, IR-1, inverse repeat 1, TUDCA, tauroursodeoxycholic acid, Humans, ICP, intrahepatic cholestasis of pregnancy, GR (NR3C1), glucocorticoid receptor, MRP2 (ABCC2), multidrug resistance-associated protein 2, TαMCA, α-tauromuricholic acid, TPN, total parenteral nutrition, ALP, alkaline phosphatase, IL-1β, interleukin-1 beta, SREBP1, sterol regulatory element-binding protein 1, Membrane Transport Proteins, Biological Transport, BSEP (ABCB11), bile salt export pump, MAF, musculo-aponeurotic fibrosacroma, ASCOM, activating signal cointegrator-2-containing complex, HNF1α, hepatocyte nuclear factor 1 alpha, MCL-1, myeloid cell leukemia factor 1, NTCP (SLC10A1), Na+-taurocholate cotransporting polypeptide solute carrier family 10 member 1, VPAC-1, vasoactive intestinal polypeptide activated receptor, AMPK, AMP-activated protein kinase, MRP3 (ABCC3), multidrug resistance-associated protein 3, NF-κB, nuclear factor kappa-B, PSC, primary sclerosing cholangitis, Gene Expression Regulation, DCA, deoxycholic acid, BS, bile salt, MDR2 (ABCB4), multidrug resistance protein 2, PPARα (NR1C1), peroxisome proliferator-activated receptor alpha, SHP (NR0B2), short heterodimer partner, RARα (NR1B1), retinoic acid receptor, ATP-Binding Cassette Transporters, PBC, primary biliary cirrhosis, PPARγ (NR1C3), peroxisome proliferator-activated receptor gamma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::02c2316b6e5fe1c1e107f32e273f6aeb
https://pubmed.ncbi.nlm.nih.gov/24333169