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Quoted phrase not found in phrase index: "Arthrogryposis, renal dysfunction, and cholestasis 2"
Page 1
The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
Liu RJY, Al-Molieh Y, Chen SZ, Drobac M, Urban D, Chen CH, Yao HHY, Geng RSQ, Li L, Pluthero FG, Benlekbir S, Rubinstein JL, Kahr WHA. Liu RJY, et al. J Biol Chem. 2023 Jun;299(6):104718. doi: 10.1016/j.jbc.2023.104718. Epub 2023 Apr 14. J Biol Chem. 2023. PMID: 37062417 Free PMC article.
Loss-of-function variants of vacuolar protein sorting proteins VPS33B and VPS16B (VIPAS39) are causative for arthrogryposis, renal dysfunction, and cholestasis syndrome, where early lethality of patients indicates that VPS33B and VPS16B play ess …
Loss-of-function variants of vacuolar protein sorting proteins VPS33B and VPS16B (VIPAS39) are causative for arthrogryposis, renal …
α-granule biogenesis: from disease to discovery.
Chen CH, Lo RW, Urban D, Pluthero FG, Kahr WH. Chen CH, et al. Platelets. 2017 Mar;28(2):147-154. doi: 10.1080/09537104.2017.1280599. Epub 2017 Feb 22. Platelets. 2017. PMID: 28277061 Review.
Insights into alpha-granule biogenesis have come from studies of hereditary conditions where these granules are immature, deficient or absent. Studies of Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome identified the first prot …
Insights into alpha-granule biogenesis have come from studies of hereditary conditions where these granules are immature, deficient or absen …
Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.
Jang WY, Cho TJ, Bae JY, Jung HW, Ko JS, Park MS, Yoo WJ, Chung CY, Seo JK, Choi IH. Jang WY, et al. J Pediatr Orthop. 2011 Jan-Feb;31(1):107-12. doi: 10.1097/BPO.0b013e3182032c83. J Pediatr Orthop. 2011. PMID: 21150740
All patients showed musculoskeletal symptoms and/or signs, which included vertical talus (7 feet, 4 patients), pes calcaneovalgus (4 feet, 3 patients), hip dislocation (6 hips, 3 patients), pathologic fractures (5 fractures in 5 patients), and rigid kyphosis (2 patients). …
All patients showed musculoskeletal symptoms and/or signs, which included vertical talus (7 feet, 4 patients), pes calcaneovalgus (4 feet, 3 …
Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems.
Saad A, Chauhan A, Tripathi S, Kumar M. Saad A, et al. BMJ Case Rep. 2023 May 18;16(5):e254822. doi: 10.1136/bcr-2023-254822. BMJ Case Rep. 2023. PMID: 37202112
Blood and urine investigations revealed Fanconi syndrome, hypothyroidism and direct hyperbilirubinaemia with elevated liver enzymes and normal gamma glutamyl transpeptidase levels. The combination of arthrogryposis, renal dysfunction and cholestasis …
Blood and urine investigations revealed Fanconi syndrome, hypothyroidism and direct hyperbilirubinaemia with elevated liver enzymes and norm …
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.
Aflatounian M, Smith H, Farahani F, Tofighi Naeem A, Straatman-Iwanowska A, Zoghi S, Khatri U, Tajdini P, Fallahi GH, Gissen P, Rezaei N. Aflatounian M, et al. Eur J Med Genet. 2016 Apr;59(4):237-9. doi: 10.1016/j.ejmg.2016.01.005. Epub 2016 Jan 23. Eur J Med Genet. 2016. PMID: 26808426 Free article.
ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is pr …
ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a …
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.
Satomura Y, Bessho K, Nawa N, Kondo H, Ito S, Togawa T, Yano M, Yamano Y, Inoue T, Fukui M, Onuma S, Fukuoka T, Yasuda K, Kimura T, Tachibana M, Kitaoka T, Nabatame S, Ozono K. Satomura Y, et al. J Med Case Rep. 2022 Feb 13;16(1):60. doi: 10.1186/s13256-022-03279-w. J Med Case Rep. 2022. PMID: 35151346 Free PMC article.
BACKGROUND: Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39 (ARCS2). ...Compound heterozygous mutations in VPS33B were identified using t …
BACKGROUND: Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recess …
ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
Wang JS, Zhao J, Li LT. Wang JS, et al. World J Gastroenterol. 2014 Apr 28;20(16):4830-4. doi: 10.3748/wjg.v20.i16.4830. World J Gastroenterol. 2014. PMID: 24782640 Free PMC article.
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. ...
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive …
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW. Jang JY, et al. J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):348-54. doi: 10.1097/mpg.0b013e31817fcb3f. J Pediatr Gastroenterol Nutr. 2009. PMID: 19274792
OBJECTIVES: ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of neonatal intrahepatic cholestasis without known treatment modalities and has recently been ascribed to a mutation in the VPS33B gene. ...Pren …
OBJECTIVES: ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of n …
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E. Hershkovitz D, et al. Arch Dermatol. 2008 Mar;144(3):334-40. doi: 10.1001/archderm.144.3.334. Arch Dermatol. 2008. PMID: 18347289
BACKGROUND: Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare and usually fatal metabolic autosomal recessive disorder, which has recently been shown to result from mutations in VPS33B located on chromosome 15q26.1. Neu …
BACKGROUND: Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare and usually fatal …
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P. Cullinane AR, et al. Hum Mutat. 2009 Feb;30(2):E330-7. doi: 10.1002/humu.20900. Hum Mutat. 2009. PMID: 18853461 Free PMC article.
Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive disorder caused by germline mutations in VPS33B. ...This patient's clinical condition improved and he is alive at the age of 2.5 years. …
Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive di …
13 results