Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome (Q28287700)

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English	Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome	scientific article

Statements

instance of

scholarly article

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case report

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title

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome (English)

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main subject

heterogeneity

1 reference

based on heuristic

inferred from title

Adams-Oliver syndrome

1 reference

based on heuristic

inferred from title

author

Maha Zaki

series ordinal

8

object named as

Maha S Zaki

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Mona S Aglan

object named as

Mona Aglan

series ordinal

2

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Ghada M Abdel-Salam

object named as

Ghada Abdel-Salam

series ordinal

11

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Samia A Temtamy

object named as

Samia Temtamy

series ordinal

12

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Kim M Keppler-Noreuil

series ordinal

3

object named as

Kim Keppler-Noreuil

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Fowzan S Alkuraya

series ordinal

13

object named as

Fowzan S Alkuraya

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Ranad Shaheen

series ordinal

1

object named as

Ranad Shaheen

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author name string

Eissa Faqeih

series ordinal

4

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Shinu Ansari

series ordinal

5

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Kim Horton

series ordinal

6

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Adel Ashour

series ordinal

7

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Fatema Al-Zahrani

series ordinal

9

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Anna M Cueto-González

series ordinal

10

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language of work or name

English

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publication date

4 April 2013

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published in

American Journal of Human Genetics

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volume

92

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issue

4

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page(s)

598-604

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cites work

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

1 reference

stated in

PubMed Central

reference URL

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retrieved

20 March 2017

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617382

retrieved

20 March 2017

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

1 reference

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PubMed Central

reference URL

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20 March 2017

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

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20 March 2017

A potent mechanism-inspired O-GlcNAcase inhibitor that blocks phosphorylation of tau in vivo

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20 March 2017

Drosophila dumpy is a gigantic extracellular protein required to maintain tension at epidermal-cuticle attachment sites

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20 March 2017

Adams-Oliver syndrome revisited

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PubMed Central

reference URL

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20 March 2017

O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1

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PubMed Central

reference URL

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20 March 2017

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

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PubMed Central

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29 September 2017

Tandem mass spectrometry identifies many mouse brain O-GlcNAcylated proteins including EGF domain-specific O-GlcNAc transferase targets

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PubMed Central

reference URL

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29 September 2017

O-GlcNAc signalling: implications for cancer cell biology

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PubMed Central

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29 September 2017

Cross Talk Between O-GlcNAcylation and Phosphorylation: Roles in Signaling, Transcription, and Chronic Disease

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PubMed Central

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29 September 2017

Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis

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PubMed Central

reference URL

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29 September 2017

O-linked beta-N-acetylglucosamine (O-GlcNAc): Extensive crosstalk with phosphorylation to regulate signaling and transcription in response to nutrients and stress

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PubMed Central

reference URL

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29 September 2017

GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis

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PubMed Central

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29 September 2017

Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis

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PubMed Central

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29 September 2017

O-GlcNAc cycling: how a single sugar post-translational modification is changing the way we think about signaling networks

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PubMed Central

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29 September 2017

Autosomal mutations affecting adhesion between wing surfaces in Drosophila melanogaster

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29 September 2017

Purification and characterization of an O-GlcNAc selective N-acetyl-beta-D-glucosaminidase from rat spleen cytosol.

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PubMed Central

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29 September 2017

Adams-Oliver syndrome: further evidence of an autosomal recessive variant

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617382

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2 June 2018

Enzymatic addition of O-GlcNAc to nuclear and cytoplasmic proteins. Identification of a uridine diphospho-N-acetylglucosamine:peptide beta-N-acetylglucosaminyltransferase

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PubMed Central

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2 June 2018

Topology of O-linked N-acetylglucosamine in murine lymphocytes

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PubMed Central

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2 June 2018

Increasing O-GlcNAc slows neurodegeneration and stabilizes tau against aggregation.

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27 November 2018

O-linked-N-acetylglucosamine on extracellular protein domains mediates epithelial cell-matrix interactions.

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27 November 2018

O-linked N-acetylglucosamine is present on the extracellular domain of notch receptors

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617382

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27 November 2018

Hepatic glucose sensing via the CREB coactivator CRTC2.

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PubMed Central

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27 November 2018

Identifiers

DOI

10.1016/J.AJHG.2013.02.012

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PMC publication ID

3617382

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PubMed publication ID

23522784

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ResearchGate publication ID

236074573

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