Evidence map›Paper›PMID 25274756›Full record

ReviewCold Spring Harbor perspectives in medicine2014

The genetics of human skin disease.

Gina M DeStefano, Angela M Christiano

Open access · bronzeAbstract readReview
In one paragraph

Review in Cold Spring Harbor perspectives in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Review
  3. Transdermal delivery of ultradeformable cationic liposomes complexed with miR211-5p (UCL-211) stabilizes BRAFV600E+ melanocytic nevi.Journal of controlled release : official journal of the Controlled Release Society · 2025
    Article
  4. Intermediate filaments and their associated molecules.Journal of biomedical research · 2025
    Article
  5. Article
  6. Article
  7. Persistent perianal "warts".JAAD case reports · 2022
    Article
  8. Review
  9. Article
  10. Review
  11. Linear crusted papules in an infant.JAAD case reports · 2020
    Article
  12. Review
  13. Review
  14. Observational
  15. Thyroid diseases and skin autoimmunity.Reviews in endocrine & metabolic disorders · 2018
    Review
  16. Article
  17. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Gina M DeStefanoDepartment of Genetics and Development, Columbia University, New York, New York 10032.
Angela M ChristianoDepartment of Genetics and Development, Columbia University, New York, New York 10032 Department of Dermatology, Columbia University, New York, New York 10032.
Columbia University · US

Funding

PREDOCTORAL TRAINING GRANT IN HUMAN GENETICS &DEVELOPMET32GM007088 · NIGMS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI SHEN, MICHAEL M. · 1985 to 2020
$7.1M
NIGMS NIH HHS T32 GM007088
6 · The paper itself

Abstract

The skin is composed of a variety of cell types expressing specific molecules and possessing different properties that facilitate the complex interactions and intercellular communication essential for maintaining the structural integrity of the skin. Importantly, a single mutation in one of these molecules can disrupt the entire organization and function of these essential networks, leading to cell separation, blistering, and other striking phenotypes observed in inherited skin diseases. Over the past several decades, the genetic basis of many monogenic skin diseases has been elucidated using classical genetic techniques. Importantly, the findings from these studies has shed light onto the many classes of molecules and essential genetic as well as molecular interactions that lend the skin its rigid, yet flexible properties. With the advent of the human genome project, next-generation sequencing techniques, as well as several other recently developed methods, tremendous progress has been made in dissecting the genetic architecture of complex, non-Mendelian skin diseases.

Indexed as

Genetic TechniquesMutationChromosomal Position EffectsCloning, MolecularDiseases in TwinsDNA MethylationGene Expression ProfilingGenome-Wide Association StudyHumansMicroRNAsMosaicismOligonucleotide Array Sequence AnalysisPhenotypeSkin Diseases, GeneticUniparental DisomyMicroRNAs

Identifiers

PMID25274756
PMCPMC4200211
OpenAlexW2114044656

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.