Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mi...

Podrobná bibliografie
Hlavní autoři:	Pagnamenta, A, Murakami, Y, Taylor, J, Anzilotti, C, Howard, M, Miller, V, Johnson, D, Tadros, S, Mansour, S, Temple, I, Firth, R, Rosser, E, Harrison, R, Kerr, B, Popitsch, N, The DDD Study, Kinoshita, T, Kini, U
Médium:	Journal article
Jazyk:	English
Vydáno:	Springer Nature 2017

Podobné jednotky

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Autor: Howard, M, a další
Vydáno: (2014)

Determinants of GPI-PLC localisation to the flagellum and access to GPI-anchored substrates in trypanosomes
Autor: Sunter, J, a další
Vydáno: (2013)

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly
Autor: Pagnamenta, A, a další
Vydáno: (2018)

Glycoproteins: rapid sequencing technology for N-linked and GPI anchor glycans
Autor: Rudd, P, a další
Vydáno: (1999)

Inhibiting GPI Anchor Biosynthesis in Fungi Stresses the Endoplasmic Reticulum and Enhances Immunogenicity
Autor: McLellan, Catherine A., a další
Vydáno: (2014)

Exome sequencing in Patients with rare cortical malformations
Autor: Pagnamenta, A, a další
Vydáno: (2011)

Comparison of the N-linked glycans from soluble and GPI-anchored CD59 expressed in CHO cells.
Autor: Wheeler, S, a další
Vydáno: (2002)

Diffusion of lipids and GPI-anchored proteins in actin-free plasma membrane vesicles measured by STED-FCS.
Autor: Schneider, F, a další
Vydáno: (2017)

Plasmodium falciparum Pf34, a novel GPI-anchored rhoptry protein found in detergent-resistant microdomains.
Autor: Proellocks, N, a další
Vydáno: (2007)

Genomic analysis of sporadic neurological disease using family trios: learning to expect the unexpected
Autor: Pagnamenta, A, a další
Vydáno: (2012)

Membrane-type 6 matrix metalloproteinase (MT6-MMP, MMP-25) is the second glycosyl-phosphatidyl inositol (GPI)-anchored MMP.
Autor: Kojima, S, a další
Vydáno: (2000)

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Autor: Pagnamenta, A, a další
Vydáno: (2012)

Effect of GPi DBS on functional imaging of the brain in dystonia.
Autor: Yianni, J, a další
Vydáno: (2005)

Spunky trio off to Paris
Autor: Randhawa, Luwita Hana
Vydáno: (2013)

Scratch trio emerge champions
Autor: Karr Wei, Tan
Vydáno: (2013)

Trio on mission to help farmers
Autor: The Sun
Vydáno: (2021)

Blast-1 possesses a glycosyl-phosphatidylinositol (GPI) membrane anchor, is related to LFA-3 and OX-45, and MAPS to chromosome 1q21-23
Autor: Staunton, D, a další
Vydáno: (1989)

Blast-1 possesses a glycosyl-phosphatidylinositol (GPI) membrane anchor, is related to LFA-3 and OX-45, and maps to chromosome 1q21-23.
Autor: Staunton, D, a další
Vydáno: (1989)

Syafiq and trio to get special awards
Autor: Singh, Aftar
Vydáno: (2013)

The social organisation of the Trio Indians of Surinam
Autor: Rivière, P
Vydáno: (1965)

Biogenesis of natural products /
Autor: 192796 Kumar, Baldev
Vydáno: (2005)

Classification and electrophysiological analysis of different types of reward and error in the GPi and ACC
Autor: Inayat, M
Vydáno: (2023)

Trio seek 'greener pasture' during holiday
Autor: Teoh, Xiu Jong
Vydáno: (2016)

Trio pelari muda sedia galas cabaran
Autor: Harian Metro,
Vydáno: (2017)

Words, places and directions among the Trio Indians
Autor: Rivière, PG
Vydáno: (1988)

Wysiwyg in Trio: the grammaticalized expression of truth and knowledge
Autor: Carlin, EN
Vydáno: (1999)

White water trail : a western trio /
Autor: 341457 Cushman, Dan
Vydáno: (2005)

The minisatellite of the GPI/AMF/NLK/MF gene: interspecies conservation and transcriptional activity.
Autor: Williams, R, a další
Vydáno: (2001)

Different active disturbance rejection controllers based on the same order GPI observer
Autor: Zuo, Yuefei, a další
Vydáno: (2022)

In vivo transfer of GPI-linked complement restriction factors from erythrocytes to the endothelium.
Autor: Kooyman, D, a další
Vydáno: (1995)

Cytochrome c biogenesis in bacteria
Autor: Sinha, N, a další
Vydáno: (1998)

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways
Autor: Wilson, K, a další
Vydáno: (2023)

Penembak Iran terus tutup peluang trio negara
Autor: Berita Harian, Mohd Ali Majid
Vydáno: (2008)

A comparison of phasing algorithms for trios and unrelated individuals.
Autor: Marchini, J, a další
Vydáno: (2006)

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Autor: Ilkovski, B, a další
Vydáno: (2015)

Chemical Genomics-Based Antifungal Drug Discovery: Targeting Glycosylphosphatidylinositol (GPI) Precursor Biosynthesis
Autor: Mann, Paul A., a další
Vydáno: (2016)

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Autor: Bayat, A, a další
Vydáno: (2019)

Diagnostic value of exome and whole genome sequencing in craniosynostosis
Autor: Miller, K, a další
Vydáno: (2016)

Inheritance and biogenesis of organelles in the secretory pathway.
Autor: Lowe, M, a další
Vydáno: (2007)

In vitro studies on cytochrome c biogenesis
Autor: Daltrop, O, a další
Vydáno: (2003)