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
1988 1
1989 1
1990 1
1991 1
1992 1
1995 2
1997 1
1998 5
1999 4
2000 1
2001 3
2002 4
2003 1
2004 1
2006 1
2007 1
2008 1
2010 2
2011 4
2012 2
2013 1
2014 3
2016 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

40 results

Results by year

Filters applied: . Clear all
Page 1
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N. Matos-Miranda C, et al. Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470839 Free article.
PURPOSE: The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). ...Improved understanding of arylsulfatase E function is …
PURPOSE: The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia …
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. Brunetti-Pierri N, et al. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg.a.10950. Am J Med Genet A. 2003. PMID: 12567415
X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. ...This indicates that the clinical spectrum of CDPX1, commonly considered a r …
X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder char …
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
Kanzawa N, Shimozawa N, Wanders RJ, Ikeda K, Murakami Y, Waterham HR, Mukai S, Fujita M, Maeda Y, Taguchi R, Fujiki Y, Kinoshita T. Kanzawa N, et al. J Lipid Res. 2012 Apr;53(4):653-63. doi: 10.1194/jlr.M021204. Epub 2012 Jan 17. J Lipid Res. 2012. PMID: 22253471 Free PMC article.
Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). ...A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), an …
Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). ...A defect …
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N. Itzkovitz B, et al. Hum Mutat. 2012 Jan;33(1):189-97. doi: 10.1002/humu.21623. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21990100
Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. ...We present six additional probands with RCDP2 and RCDP3, and the novel mutations identif …
Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens …
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.
Ferrante P, Messali S, Ballabio A, Meroni G. Ferrante P, et al. Gene. 2004 Jul 21;336(2):155-61. doi: 10.1016/j.gene.2004.04.001. Gene. 2004. PMID: 15246527
Despite many efforts, the mouse homolog of ARSE, the gene implicated in X-linked recessive chondrodysplasia punctata, has not yet been identified. This absence has so far impaired a deep study of the role of this gene. ...
Despite many efforts, the mouse homolog of ARSE, the gene implicated in X-linked recessive chondrodysplasia punctata, has not …
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.
Noguchi M, Honsho M, Abe Y, Toyama R, Niwa H, Sato Y, Ghaedi K, Rahmanifar A, Shafeghati Y, Fujiki Y. Noguchi M, et al. J Hum Genet. 2014 Jul;59(7):387-92. doi: 10.1038/jhg.2014.39. Epub 2014 May 22. J Hum Genet. 2014. PMID: 24849933
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder due to the deficiency in ether lipid synthesis. ...
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder due to the deficiency in ether lipid synthesis. …
CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.
Miyauchi-Nanri Y, Mukai S, Kuroda K, Fujiki Y. Miyauchi-Nanri Y, et al. Biochem J. 2014 Oct 1;463(1):65-74. doi: 10.1042/BJ20130861. Biochem J. 2014. PMID: 24989250
Pex7p is the cytosolic receptor for peroxisomal matrix proteins harbouring PTS2 (peroxisome-targeting signal type-2). Mutations in the PEX7 gene cause RCDP (rhizomelic chondrodysplasia punctata) type 1, a distinct PTS2-import-defective phenotype of peroxisome biogen …
Pex7p is the cytosolic receptor for peroxisomal matrix proteins harbouring PTS2 (peroxisome-targeting signal type-2). Mutations in the PEX7 …
PTS2 protein import into mammalian peroxisomes.
Legakis JE, Terlecky SR. Legakis JE, et al. Traffic. 2001 Apr;2(4):252-60. doi: 10.1034/j.1600-0854.2001.90165.x. Traffic. 2001. PMID: 11285135 Free article.
In this report, we describe the biochemical characterization of mammalian PTS2 protein import using a semi-permeabilized cell system. We show that a PTS2-containing reporter molecule is taken up by peroxisomes in a reaction that is time-, temperature-, ATP-, and cytosol-de …
In this report, we describe the biochemical characterization of mammalian PTS2 protein import using a semi-permeabilized cell system. …
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. Franco B, et al. Cell. 1995 Apr 7;81(1):15-25. doi: 10.1016/0092-8674(95)90367-4. Cell. 1995. PMID: 7720070 Free article.
X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. ...
X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by …
40 results