PGAP3 -related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation-Reference-Cited by-同舟云学术

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PGAP3 -related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation

Published:2017-08-04 Issue:1 Volume:93 Page:84-91
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Abdel-Hamid M.S.¹,Issa M.Y.²,Otaify G.A.²,Abdel-Ghafar S.F.¹,Elbendary H.M.³,Zaki M.S.²^ORCID

Affiliation:

1. Medical Molecular Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

2. Clinical Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

3. Child Health Department, Medical Research Division; National Research Centre; Cairo Egypt

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13033/fullpdf

Reference26 articles.

1. GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics;Fujita;Biochim Biophys Acta,2012

2. Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly;McKean;Biol Open,2012

3. GDE2 promotes neurogenesis by glycosylphosphatidylinositol-anchor cleavage of RECK;Park;Science,2013

4. Mutations in PGAP3 impair gpi-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation;Howard;Am J Hum Genet,2014

5. Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress;Kinoshita;J Biochem,2008

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2. A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17;Molecular Genetics & Genomic Medicine;2024-07

3. Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia;Case Reports in Genetics;2024-03-23

4. Transcriptome-wide association studies associated with Crohn’s disease: challenges and perspectives;Cell & Bioscience;2024-02-25

5. Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases;Molecular Genetics and Metabolism;2023-11

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