138 related articles for article (PubMed ID: 34681012)
1. A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of
Shatokhina O; Semenova N; Demina N; Dadali E; Polyakov A; Ryzhkova O
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34681012
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. 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]
6. Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.
Porta G; Rigo PSM; Porta A; Pugliese RPS; Danesi VLB; Oliveira E; Borges CCV; Ribeiro C; Miura IK
J Pediatr Gastroenterol Nutr; 2021 May; 72(5):674-676. PubMed ID: 33661244
[TBL] [Abstract][Full Text] [Related]
7. Cholestasis Due to USP53 Deficiency.
Bull LN; Ellmers R; Foskett P; Strautnieks S; Sambrotta M; Czubkowski P; Jankowska I; Wagner B; Deheragoda M; Thompson RJ
J Pediatr Gastroenterol Nutr; 2021 May; 72(5):667-673. PubMed ID: 33075013
[TBL] [Abstract][Full Text] [Related]
8. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Maddirevula S; Alhebbi H; Alqahtani A; Algoufi T; Alsaif HS; Ibrahim N; Abdulwahab F; Barr M; Alzaidan H; Almehaideb A; AlSasi O; Alhashem A; Hussaini HA; Wali S; Alkuraya FS
Genet Med; 2019 May; 21(5):1164-1172. PubMed ID: 30250217
[TBL] [Abstract][Full Text] [Related]
9. The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel
Ahn S; Choi J; Jeong SH
Yonsei Med J; 2023 Dec; 64(12):745-749. PubMed ID: 37992747
[TBL] [Abstract][Full Text] [Related]
10. Biallelic Novel
Gezdirici A; Kalaycik Şengül Ö; Doğan M; Özgüven BY; Akbulut E
Mol Syndromol; 2023 Jan; 13(6):471-484. PubMed ID: 36660033
[TBL] [Abstract][Full Text] [Related]
11. ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
Wang JS; Zhao J; Li LT
World J Gastroenterol; 2014 Apr; 20(16):4830-4. PubMed ID: 24782640
[TBL] [Abstract][Full Text] [Related]
12. The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.
Cheema HA; Waheed N; Saeed A; Anjum MN; Fayyaz Z; Ijaz S
J Pak Med Assoc; 2023 Aug; 73(8):1610-1621. PubMed ID: 37697751
[TBL] [Abstract][Full Text] [Related]
13. Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
Zheng Y; Guo H; Chen L; Cheng W; Yan K; Zhang Z; Li M; Jin Y; Hu G; Wang C; Zhou C; Zhou W; Jia Z; Zheng B; Liu Z
Hepatol Int; 2024 Apr; 18(2):661-672. PubMed ID: 37314652
[TBL] [Abstract][Full Text] [Related]
14. Progressive Hearing Loss in Mice Carrying a Mutation in Usp53.
Kazmierczak M; Harris SL; Kazmierczak P; Shah P; Starovoytov V; Ohlemiller KK; Schwander M
J Neurosci; 2015 Nov; 35(47):15582-98. PubMed ID: 26609154
[TBL] [Abstract][Full Text] [Related]
15. Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (
Kanwal A; Sheikh SA; Aslam F; Yaseen S; Beetham Z; Pankratz N; Clabots CR; Naz S; Pardo JV
Genes (Basel); 2023 Oct; 14(10):. PubMed ID: 37895270
[TBL] [Abstract][Full Text] [Related]
16. Ubiquitin-specific peptidase 53 inhibits the occurrence and development of clear cell renal cell carcinoma through NF-κB pathway inactivation.
Gui D; Dong Z; Peng W; Jiang W; Huang G; Liu G; Ye Z; Wang Y; Xu Z; Fu J; Luo S; Zhao Y
Cancer Med; 2021 Jun; 10(11):3674-3688. PubMed ID: 33973730
[TBL] [Abstract][Full Text] [Related]
17. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Lenz D; McClean P; Kansu A; Bonnen PE; Ranucci G; Thiel C; Straub BK; Harting I; Alhaddad B; Dimitrov B; Kotzaeridou U; Wenning D; Iorio R; Himes RW; Kuloğlu Z; Blakely EL; Taylor RW; Meitinger T; Kölker S; Prokisch H; Hoffmann GF; Haack TB; Staufner C
Genet Med; 2018 Oct; 20(10):1255-1265. PubMed ID: 29419818
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. USP53 promotes apoptosis and inhibits glycolysis in lung adenocarcinoma through FKBP51-AKT1 signaling.
Zhao X; Wu X; Wang H; Yu H; Wang J
Mol Carcinog; 2020 Aug; 59(8):1000-1011. PubMed ID: 32511815
[TBL] [Abstract][Full Text] [Related]
20. Studies on the mechanism of the changes in serum and liver gamma-glutamyl transpeptidase activity. I. Experimental extrahepatic cholestasis in rabbits.
Adjarov D; Popov S; Ivanov E
Enzyme; 1976; 21(1):1-7. PubMed ID: 232
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
