Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2008 1
2010 1
2012 2
2014 2
2015 2
2018 1
2021 1
2022 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Arthrogryposis with renal dysfunction and cholestasis syndrome"
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 …
One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.
Yu L, Li D, Zhang T, Xiao Y, Wang Y, Ge T. Yu L, et al. BMC Nephrol. 2022 Jun 27;23(1):228. doi: 10.1186/s12882-022-02851-2. BMC Nephrol. 2022. PMID: 35761207 Free PMC article.
BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations. ...Laboratory tests revealed highly evaluated levels of total bilirubin (TB), direct bili …
BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mor …
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney.
Gupta V, Pandita A, Panghal A, Kallem V. Gupta V, et al. BMJ Case Rep. 2018 Aug 9;2018:bcr2017223715. doi: 10.1136/bcr-2017-223715. BMJ Case Rep. 2018. PMID: 30093463 Free PMC article.
A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare autosomal recessive disorder with primarily clinical diagnosis. ...It has a large spectrum of clinical manifestations, but association with …
A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare …
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. ...Here we describe a Chinese patient with neonatal chole …
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive …
A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.
Adamczyk-Gruszka O, Horecka-Lewitowicz A, Zmelonek-Znamirowska A, Gruszka J, Koziel D, Lewitowicz P. Adamczyk-Gruszka O, et al. Am J Case Rep. 2021 Sep 17;22:e932769. doi: 10.12659/AJCR.932769. Am J Case Rep. 2021. PMID: 34531360 Free PMC article.
BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfunction with autosomal recessive inheritance, and, unfortunately, its prognosis is still poor. ...The bilirubin level reached 6.62 mg/dl, alon …
BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfun …
VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.
Bem D, Smith H, Banushi B, Burden JJ, White IJ, Hanley J, Jeremiah N, Rieux-Laucat F, Bettels R, Ariceta G, Mumford AD, Thomas SG, Watson SP, Gissen P. Bem D, et al. Blood. 2015 Jul 9;126(2):133-43. doi: 10.1182/blood-2014-12-614677. Epub 2015 May 6. Blood. 2015. PMID: 25947942 Free PMC article.
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is caused by deficiencies in the trafficking proteins VPS33B or VIPAR, and is associated with a bleeding diathesis and a marked reduction in platelet alpha-granules. ...Ultrastruc …
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is caused by deficiencies in the traffi …
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. Bull LN, et al. J Pediatr. 2006 Feb;148(2):269-71. doi: 10.1016/j.jpeds.2005.10.005. J Pediatr. 2006. PMID: 16492441
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B, whose product acts in intracellular trafficking. ...We describe a patient with cho …
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first describe …
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Seo SH, Hwang SM, Ko JM, Ko JS, Hyun YJ, Cho SI, Park H, Kim SY, Seong MW, Park SS. Seo SH, et al. Clin Genet. 2015 Jul;88(1):80-4. doi: 10.1111/cge.12442. Epub 2014 Aug 7. Clin Genet. 2015. PMID: 24917129
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. ...Performing mRNA analysis can be useful in predicting the pathogenic phenotype when the …
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caus …
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P. Smith H, et al. Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22753090 Free PMC article.
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity re …
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem dis …
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. ... …
BACKGROUND: Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare and usually fatal …
14 results