Varaico: Literature-Extracted Genetic Variants

Gene:APCDD1
Variant:p.L9R
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APCDD1

NM_153000.5:p.L9R

Associated Papers

Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia.

Sun W et al.

Nature Communications, 2024

Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo SA et al.

Nar Genomics and Bioinformatics, 2023

37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region

Update of recent findings in genetic hair disorders.

Hayashi R et al.

The Journal of Dermatology, 2022

Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin.

Vonica A et al.

Developmental Biology, 2020

Genetics of human isolated hereditary hair loss disorders.

Basit S et al.

Clinical Genetics, 2015

[Alopecia and hypotrichosis in childhood: clinical features and diagnosis].

Betz RC

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2014

Signaling involved in hair follicle morphogenesis and development.

Rishikaysh P et al.

International Journal of Molecular Sciences, 2014

Secreted and transmembrane wnt inhibitors and activators.

Cruciat CM et al.

Cold Spring Harbor Perspectives in Biology, 2013

A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family.

Li M et al.

The British Journal of Dermatology, 2012

Congenital hair loss disorders: rare, but not too rare.

Shimomura Y

The Journal of Dermatology, 2012

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.

Shimomura Y et al.

Nature, 2010

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