(Q36909265)

17 August 2017

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease (English)

1 reference

17 August 2017

Dowling-Degos disease

1 reference

Ming Li

1

1 reference

17 August 2017

Ruhong Cheng

2

1 reference

17 August 2017

Jianying Liang

3

1 reference

17 August 2017

Heng Yan

4

1 reference

17 August 2017

Hui Zhang

5

1 reference

17 August 2017

Lijia Yang

6

1 reference

17 August 2017

Chengrang Li

7

1 reference

17 August 2017

Qingqing Jiao

8

1 reference

17 August 2017

Zhiyong Lu

9

1 reference

17 August 2017

Jianhui He

10

1 reference

17 August 2017

Jin Ji

11

1 reference

17 August 2017

Zhu Shen

12

1 reference

17 August 2017

Chunqi Li

13

1 reference

17 August 2017

Fei Hao

14

1 reference

17 August 2017

Hong Yu

15

1 reference

17 August 2017

Zhirong Yao

16

1 reference

17 August 2017

language of work or name

English

0 references

publication date

16 May 2013

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

92

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17 August 2017

6

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17 August 2017

895-903

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

The Notch signalling system: recent insights into the complexity of a conserved pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

NOTCH2 mutations in Alagille syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Protein O-fucosyltransferase 1 (Pofut1) regulates lymphoid and myeloid homeostasis through modulation of Notch receptor ligand interactions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Notch signaling regulates late-stage epidermal differentiation and maintains postnatal hair cycle homeostasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Roles of Pofut1 and O-fucose in mammalian Notch signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

MITF: master regulator of melanocyte development and melanoma oncogene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Notch signaling via Hes1 transcription factor maintains survival of melanoblasts and melanocyte stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Mutations in NOTCH1 cause aortic valve disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Protein O -fucosyltransferase 1 is an essential component of Notch signaling pathways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

29 September 2017

Acanthosis Nigricans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Melanoblasts' proper location and timed differentiation depend on Notch/RBP-J signaling in postnatal hair follicles

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Notch1 and Notch2 receptors influence progressive hair graying in a dose-dependent manner.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675235

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

4 September 2018

1 reference

12 December 2020

Dowling-Degos disease presenting as hypopigmented macules

1 reference

12 December 2020

ORIGINAL ARTICLE: Both Notch1 and Notch2 contribute to the regulation of melanocyte homeostasis

1 reference

12 December 2020

Dowling-Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family

1 reference

12 December 2020

A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17p13.3.

1 reference

12 December 2020

Zebrafish as a new model for phenotype-based screening of melanogenic regulatory compounds

1 reference

12 December 2020

[Reticulated pigmentary dermatosis of the folds: relation to acanthosis nigricans]

1 reference

12 December 2020

A case of Dowling-Degos disease suggesting an evolutional sequence

1 reference

12 December 2020

Generalized Dowling-Degos disease

1 reference

12 December 2020

Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients

1 reference

12 December 2020

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

1 reference

12 December 2020

10.1016/J.AJHG.2013.04.022

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23684010

1 reference