Proposing <i>GLMN</i>, encoding glomulin, as a novel gene for Dowling–Degos disease

Dowling–Degos disease (DDD) is a rare hyperpigmentation disorder with autosomal-dominant inheritance. To date, work by our group and others has identified a total of four DDD sub-phenotypes, which arise secondary to variants in KRT5, POFUT1, POGLUT1 and PSENEN. We postulate that GLMN is a novel fifth gene for DDD that contributes to a hitherto unrecognized DDD sub-phenotype.

Authors

Institutions

Publication Details

Journal
British Journal of Dermatology
Published
2024-10-25
DOI
https://doi.org/10.1093/bjd/ljae418
Citations
3
Primary Topic
RNA regulation and disease
Type
article
Field-Weighted Citation Impact
0.70
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Proposing GLMN, encoding glomulin, as a novel gene for Dowling–Degos disease

Regina C. Betz, Sheetal Kumar, Jorge Frank
3 citations
British Journal of Dermatology
RNA regulation and disease
0.70
article

Proposing GLMN, encoding glomulin, as a novel gene for Dowling–Degos disease

Regina C. Betz, Sheetal Kumar, Jorge Frank
article en
3 citations

Abstract

Dowling–Degos disease (DDD) is a rare hyperpigmentation disorder with autosomal-dominant inheritance. To date, work by our group and others has identified a total of four DDD sub-phenotypes, which arise secondary to variants in KRT5, POFUT1, POGLUT1 and PSENEN. We postulate that GLMN is a novel fifth gene for DDD that contributes to a hitherto unrecognized DDD sub-phenotype.

British Journal of DermatologyVol. 192(5)
University of Bonn (DE), University Hospital Bonn (DE), Universitätsmedizin Göttingen (DE)
Openalex Percentile: Top 29%
RNA regulation and disease
0.70
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.