Mutations in NOTCH1 cause Adams-Oliver syndrome (Q28246210)

Patricia Lam

7

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Justin Ashworth

Justin Ashworth

4

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Ermelinda Santos Silva

Ermelinda Santos Silva

12

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Anna Lehman

Anna Lehman

2

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Millan S Patel

Millan S Patel

19

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Gustavo Glusman

Gustavo Glusman

16

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author name string

Anna-Barbara Stittrich

1

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Dale L Bodian

3

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Zheyuan Zong

5

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Hong Li

6

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Alina Khromykh

8

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Ramaswamy K Iyer

9

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Joseph G Vockley

10

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Rajiv Baveja

11

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Joanne Dixon

13

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Eyby L Leon

14

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Benjamin D Solomon

15

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John E Niederhuber

17

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Jared C Roach

American Journal of Human Genetics

18

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language of work or name

English

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publication date

4 September 2014

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published in

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volume

95

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issue

3

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page(s)

275-84

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cites work

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

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

20 March 2017

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

20 March 2017

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

20 March 2017

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

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A conserved face of the Jagged/Serrate DSL domain is involved in Notch trans-activation and cis-inhibition

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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

20 March 2017

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Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis

20 March 2017

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Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

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Signalling downstream of activated mammalian Notch

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Notch signalling: a simple pathway becomes complex

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Notch signaling is essential for vascular morphogenesis in mice

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Differentiation of vascular smooth muscle cells from local precursors during embryonic and adult arteriogenesis requires Notch signaling

29 September 2017

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29 September 2017

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Role of conformational sampling in computing mutation-induced changes in protein structure and stability

29 September 2017

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Notch1 activation in mice causes arteriovenous malformations phenocopied by ephrinB2 and EphB4 mutants

29 September 2017

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Regulation of vascular morphogenesis by Notch signaling

29 September 2017

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Glycosylation regulates Notch signalling.

29 September 2017

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29 September 2017

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Adams-Oliver syndrome associated with cardiovascular malformations

29 September 2017

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Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

29 September 2017

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Ligand-dependent Notch signaling strength orchestrates lateral induction and lateral inhibition in the developing inner ear.

2 June 2018

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Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?

27 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157158

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157158

Structural and functional properties of the human notch-1 ligand binding region.

27 November 2018

1 reference

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Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157158

Radiation-induced deletions in the 5' end region of Notch1 lead to the formation of truncated proteins and are involved in the development of mouse thymic lymphomas.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157158

An orientation-dependent hydrogen bonding potential improves prediction of specificity and structure for proteins and protein-protein complexes

27 November 2018

1 reference

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Vascular pathogenesis of transverse limb reduction defects

27 November 2018

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12 December 2020

Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?

1 reference

12 December 2020

[The Adams-Oliver syndrome in Spain: the epidemiological aspects]

1 reference

12 December 2020

Vascular abnormalities in Adams-Oliver syndrome: Cause or effect?

1 reference

12 December 2020

Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

1 reference

12 December 2020

Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype

1 reference

12 December 2020

Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases

1 reference

12 December 2020

10.1016/J.AJHG.2014.07.011

Identifiers

DOI

1 reference

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PubMed publication ID

25132448

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