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Select item 68565081.

A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Min Ju Lee, Chae Ri Suh, Jeong Hee Shin, Jee Hyun Lee, Yoon Lee, Baik-Lin Eun, Kee Hwan Yoo, Jung Ok Shim

Pediatr Gastroenterol Hepatol Nutr. 2019 Nov; 22(6): 581–587. Published online 2019 Nov 11. doi: 10.5223/pghn.2019.22.6.581

PMCID:: PMC6856508

Article PDF–2.4M

Select item 60031432.

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

Alejandra Rosales, Maissa Mhibik, Paul Gissen, Oscar Segarra, Susana Redecillas, Gema Ariceta

BMC Nephrol. 2018; 19: 144. Published online 2018 Jun 15. doi: 10.1186/s12882-018-0926-1

PMCID:: PMC6003143

Article PDF–684K

Select item 92351883.

One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype

Lianhu Yu, Dan Li, Ting Zhang, Yongmei Xiao, Yizhong Wang, Ting Ge

BMC Nephrol. 2022; 23: 228. Published online 2022 Jun 27. doi: 10.1186/s12882-022-02851-2

PMCID:: PMC9235188

Article PDF–1.1M

Select item 88410664.

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series

Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, Hidehito Kondo, Shogo Ito, Takao Togawa, Masanao Yano, Yuki Yamano, Taisuke Inoue, Miho Fukui, Shinsuke Onuma, Tomoya Fukuoka, Kie Yasuda, Takeshi Kimura, Makiko Tachibana, Taichi Kitaoka, Shin Nabatame, Keiichi Ozono

J Med Case Rep. 2022; 16: 60. Published online 2022 Feb 13. doi: 10.1186/s13256-022-03279-w

PMCID:: PMC8841066

Article PDF–1.6M

Select item 84551095.

A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1

Olga Adamczyk-Gruszka, Agata Horecka-Lewitowicz, Anna Zmelonek-Znamirowska, Jakub Gruszka, Dorota Koziel, Piotr Lewitowicz

Am J Case Rep. 2021; 22: e932769-1–e932769-3. Published online 2021 Sep 17. doi: 10.12659/AJCR.932769

PMCID:: PMC8455109

Article PDF–132K

Select item 64988306.

A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival

Rodrigo del Brío Castillo, James E. Squires, Patrick J. McKiernan

JIMD Rep. 2019 May; 47(1): 4–8. Published online 2019 Mar 22. doi: 10.1002/jmd2.12027

PMCID:: PMC6498830

Article PDF–564K

Select item 62561617.

Constipation as an Atypical Sign of ARC Syndrome - Case Report

V. VELMISHI, E. DERVISHI, D. BALI, A. SHEHU, P. CULLUFI

Curr Health Sci J. 2016 Apr-Jun; 42(2): 203–206. Published online 2016 Jun 28. doi: 10.12865/CHSJ.42.02.13

PMCID:: PMC6256161

Article PDF–81K

Select item 60882858.

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney

Vishal Gupta, Aakash Pandita, Astha Panghal, Venkat Kallem

BMJ Case Rep. 2018; 2018: bcr2017223715. Published online 2018 Aug 9. doi: 10.1136/bcr-2017-223715

PMCID:: PMC6088285

Article PDF–333K

Select item 49888979.

ARC Syndrome-linked Vps33B protein is required for inflammatory endosomal maturation and signal termination

Mohammed Ali Akbar, Rajakumar Mandraju, Charles Tracy, Wei Hu, Chandrashekhar Pasare, Helmut Krämer

Immunity. Author manuscript; available in PMC 2017 Aug 16.

Published in final edited form as: Immunity. 2016 Aug 16; 45(2): 267–279. Published online 2016 Aug 2. doi: 10.1016/j.immuni.2016.07.010

PMCID:: PMC4988897

Article PDF–3.5M

Select item 472431010.

The role of platelets and ε-aminocaproic acid in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome associated hemorrhage

Angela C. Weyand, Rebecca M. Lombel, Steven W. Pipe, Jordan A. Shavit

Pediatr Blood Cancer. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Pediatr Blood Cancer. 2016 Mar; 63(3): 561–563. Published online 2015 Oct 27. doi: 10.1002/pbc.25814

PMCID:: PMC4724310

Article PDF–559K

Select item 442213811.

Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features

Yaoyao Zhou, Junfeng Zhang

Ital J Pediatr. 2014; 40: 77. Published online 2014 Sep 20. doi: 10.1186/s13052-014-0077-3

PMCID:: PMC4422138

Article PDF–494K

Select item 400052412.

ARC syndrome with high GGT cholestasis caused by VPS33B mutations

Jian-She Wang, Jing Zhao, Li-Ting Li

World J Gastroenterol. 2014 Apr 28; 20(16): 4830–4834. Published online 2014 Apr 28. doi: 10.3748/wjg.v20.i16.4830

PMCID:: PMC4000524

Article PDF–1.2M

Select item 374611013.

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K Bruce, Andrew R Cullinane, Rene Romero, Richard Chang, Oanez Ackermann, Clarisse Baumann, Hakan Cangul, Fatma Cakmak Celik, Canan Aygun, Richard Coward, Carlo Dionisi-Vici, Barbara Sibbles, Carol Inward, Chong Ae Kim, Judith Klumperman, A S Knisely, Steven P Watson, Paul Gissen

Hum Mutat. 2012 Dec; 33(12): 1656–1664. Published online 2012 Jul 2. doi: 10.1002/humu.22155

PMCID:: PMC3746110

Article PDF–494K

Select item 263542914.

Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

Andrew R. Cullinane, Anna Straatman-Iwanowska, Jeong K. Seo, Jae S. Ko, Kyung S. Song, Maria Gizewska, Dariusz Gruszfeld, Dorota Gliwicz, Beyhan Tuysuz, Gulin Erdemir, Rachid Sougrat, Yoshiyuki Wakabayashi, Rupert Hinds, Angela Barnicoat, Hanna Mandel, David Chitayat, Björn Fischler, Angels Garcia-Cazorla, A. S. Knisely, Deirdre A. Kelly, Eamonn R. Maher, Paul Gissen

Hum Mutat. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Hum Mutat. 2009 Feb; 30(2): E330–E337. doi: 10.1002/humu.20900

PMCID:: PMC2635429

Article PDF–652K

Select item 171897415.

ARC syndrome: an expanding range of phenotypes

K Eastham, P McKiernan, D Milford, P Ramani, J Wyllie, H van't, S Lynch, A Morris

Arch Dis Child. 2001 Nov; 85(5): 415–420. doi: 10.1136/adc.85.5.415

PMCID:: PMC1718974

Summary PDF–144K

Select item 104960216.

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

S P Horslen, O W Quarrell, M S Tanner

J Med Genet. 1994 Jan; 31(1): 62–64. doi: 10.1136/jmg.31.1.62

PMCID:: PMC1049602

Summary Page Browse PDF–731K

Select item 1020889217.

The Sec1–Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B

Richard J.Y. Liu, Yusef Al-Molieh, Shao Z. Chen, Marko Drobac, Denisa Urban, Chang H. Chen, Helen H.Y. Yao, Ryan S.Q. Geng, Ling Li, Fred G. Pluthero, Samir Benlekbir, John L. Rubinstein, Walter H.A. Kahr

J Biol Chem. 2023 Jun; 299(6): 104718. Published online 2023 Apr 14. doi: 10.1016/j.jbc.2023.104718

PMCID:: PMC10208892

Article PDF–4.2M

Select item 976821318.

Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report

Yingjie Zhu, Dongmei Chen

Front Pediatr. 2022; 10: 1041080. Published online 2022 Dec 7. doi: 10.3389/fped.2022.1041080

PMCID:: PMC9768213

Article PDF–24M

Select item 963112719.

Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report

Hui Yang, Shuang-Zhu Lin, Shi-Hui Guan, Wan-Qi Wang, Jia-Yi Li, Gui-Dan Yang, Su-Li Zhang

World J Clin Cases. 2022 Oct 26; 10(30): 11016–11022. Published online 2022 Oct 26. doi: 10.12998/wjcc.v10.i30.11016

PMCID:: PMC9631127

Article PDF–2.5M

Select item 771782620.

Healing of partial tear of the supraspinatus tendon after atelocollagen injection confirmed by MRI: A case report

Youbin Jo, Won-Joong Kim, Heeseung Lee

Medicine (Baltimore) 2020 Dec 4; 99(49): e23498. Published online 2020 Dec 4. doi: 10.1097/MD.0000000000023498

PMCID:: PMC7717826

Article PDF–367K

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