174 related articles for article (PubMed ID: 32737136)
1. Biallelic loss-of-function
Luan W; Hao CZ; Li JQ; Wei Q; Gong JY; Qiu YL; Lu Y; Shen CH; Xia Q; Xie XB; Zhang MH; Abuduxikuer K; Li ZD; Wang L; Xing QH; Knisely AS; Wang JS
J Med Genet; 2021 Aug; 58(8):514-525. PubMed ID: 32737136
[TBL] [Abstract][Full Text] [Related]
2. A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.
Mandato C; Siano MA; Nazzaro L; Gelzo M; Francalanci P; Rizzo F; D'Agostino Y; Morleo M; Brillante S; Weisz A; Franco B; Vajro P
Orphanet J Rare Dis; 2021 Apr; 16(1):179. PubMed ID: 33853651
[TBL] [Abstract][Full Text] [Related]
3. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Zhang J; Yang Y; Gong JY; Li LT; Li JQ; Zhang MH; Lu Y; Xie XB; Hong YR; Yu Z; Knisely AS; Wang JS
Liver Int; 2020 May; 40(5):1142-1150. PubMed ID: 32124521
[TBL] [Abstract][Full Text] [Related]
4. Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Pham DH; Kudira R; Xu L; Valencia CA; Ellis JL; Shi T; Evason KJ; Osuji I; Matuschek N; Pfuhler L; Mullen M; Mohanty SK; Husami A; Bull LN; Zhang K; Wali S; Yin C; Miethke A
Gastroenterology; 2021 Jul; 161(1):287-300.e16. PubMed ID: 33771553
[TBL] [Abstract][Full Text] [Related]
5. [Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].
Li JQ; Lu Y; Qiu YL; Wang JS
Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):623-627. PubMed ID: 30078246
[No Abstract] [Full Text] [Related]
6. ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Degiorgio D; Crosignani A; Colombo C; Bordo D; Zuin M; Vassallo E; Syrén ML; Coviello DA; Battezzati PM
J Gastroenterol; 2016 Mar; 51(3):271-80. PubMed ID: 26324191
[TBL] [Abstract][Full Text] [Related]
7. ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.
Yang J; Zhang YN; Wang RX; Hao CZ; Qiu Y; Chi H; Luan WS; Tang H; Zhang XJ; Sun X; Sheps JA; Ling V; Cao M; Wang JS
J Med Genet; 2024 May; ():. PubMed ID: 38816193
[TBL] [Abstract][Full Text] [Related]
8. Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (
Vij M; Sankaranarayanan S
Pediatr Dev Pathol; 2022; 25(2):207-212. PubMed ID: 34809518
[TBL] [Abstract][Full Text] [Related]
9. Lessons from the toxic bile concept for the pathogenesis and treatment of cholestatic liver diseases.
Trauner M; Fickert P; Halilbasic E; Moustafa T
Wien Med Wochenschr; 2008; 158(19-20):542-8. PubMed ID: 18998069
[TBL] [Abstract][Full Text] [Related]
10. Prevention of Portal-Tract Fibrosis in
Zhang Y; Tang D; Wang L; Yang J; Wu X; Xiao X; Wang JS
Hum Gene Ther; 2023 Dec; 34(23-24):1219-1229. PubMed ID: 37672510
[TBL] [Abstract][Full Text] [Related]
11. [Importance of liver puncture biopsy and endoscopic retrograde cholangiography in patients with chronic anicteric unexplained cholestasis. A retrospective study in 79 patients].
Sapey T; Turlin B; Canva-Delcambre V; Mendler MH; Deugnier Y; Brissot P; Guyader D
Gastroenterol Clin Biol; 1999 Feb; 23(2):178-85. PubMed ID: 10353011
[TBL] [Abstract][Full Text] [Related]
12. Neonatal sclerosing cholangitis with novel mutations in
Wei X; Fang Y; Wang JS; Wang YZ; Zhang Y; Abuduxikuer K; Chen L
Front Pediatr; 2023; 11():1094895. PubMed ID: 36816379
[TBL] [Abstract][Full Text] [Related]
13. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A; Fabre M; Branchereau S; Baussan C; Gonzales E; Stieger B; Bernard O; Jacquemin E
Hepatology; 2010 May; 51(5):1645-55. PubMed ID: 20232290
[TBL] [Abstract][Full Text] [Related]
14. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T; Sambrotta M; Strautnieks S; Foskett P; Knisely AS; Wagner B; Deheragoda M; Starling C; Mieli-Vergani G; Smith J; ; Bull L; Thompson RJ
J Hepatol; 2016 Dec; 65(6):1179-1187. PubMed ID: 27469900
[TBL] [Abstract][Full Text] [Related]
15. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Alhebbi H; Peer-Zada AA; Al-Hussaini AA; Algubaisi S; Albassami A; AlMasri N; Alrusayni Y; Alruzug IM; Alharby E; Samman MA; Ayoub SZ; Maddirevula S; Peake RWA; Alkuraya FS; Wali S; Almontashiri NAM
J Hum Genet; 2021 Feb; 66(2):151-159. PubMed ID: 32759993
[TBL] [Abstract][Full Text] [Related]
16. Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.
Vogel GF; Maurer E; Entenmann A; Straub S; Knisely AS; Janecke AR; Müller T
Eur J Hum Genet; 2020 Jun; 28(6):840-844. PubMed ID: 32203204
[TBL] [Abstract][Full Text] [Related]
17. Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
Lin Y; Zhang J; Li X; Zheng D; Yu X; Liu Y; Lan F; Wang Z
Clin Res Hepatol Gastroenterol; 2020 Oct; 44(5):e103-e108. PubMed ID: 32205117
[TBL] [Abstract][Full Text] [Related]
18. A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
Ateş BB; Ceylan AC; Hızal G; Duran F; Doğan HT; Hızlı Ş
Turk J Pediatr; 2023; 65(6):1012-1017. PubMed ID: 38204320
[TBL] [Abstract][Full Text] [Related]
19. Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A; Sczakiel HL; Danyel M; Kohlmaier B; Mache CJ; Stalke A; Pfister ED; Thumfart J; Henning S; Knisely AS; Bufler P
Liver Int; 2023 May; 43(5):1089-1095. PubMed ID: 36938759
[TBL] [Abstract][Full Text] [Related]
20. Intrahepatic cholestasis in two omani siblings associated with a novel homozygous
Narchi H; Alhefeiti S; Althabahi F; Hertecant J; Knisely AS; Souid AK
Saudi J Gastroenterol; 2017; 23(5):303-305. PubMed ID: 28937026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
