Evidence map›Paper›PMID 39023472›Full record

ReviewThe Journal of investigative dermatology2024

Aplasia Cutis Congenita Pathomechanisms Reveal Key Regulators of Skin and Skin Appendage Morphogenesis.

Alexander G Marneros

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in The Journal of investigative dermatology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. 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

1 author.

Alexander G MarnerosCutaneous Biology Research Center, Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts, USA. Electronic address: amarneros@mgh.harvard.edu.

Funding

Cellular and molecular mechanisms of AIM2 and NLRP3 inflammasome activation in age-related macular degenerationR01EY033709 · NEI · MASSACHUSETTS GENERAL HOSPITAL · PI Alexander Georg Marneros · 2023 to 2026
$2.0M
Functional characterization of a novel key regulator of the distal nephron whose deficiency leads to renal fibrosis and cyst formationR01DK118134 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MARNEROS, ALEXANDER GEORG · 2019 to 2023
$1.7M
Proangiogenic M2-type macrophages and choroidal neovascularizationR01EY033360 · NEI · MASSACHUSETTS GENERAL HOSPITAL · PI Alexander Georg Marneros · 2022 to 2026
$1.7M
Mechanisms controlling distal nephron maturationR01DK121178 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MARNEROS, ALEXANDER GEORG · 2019 to 2022
$1.4M
Montagna Symposium on the Biology of SkinR13AR009431 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI SANCY ANN LEACHMAN · 1986 to 2026
$785k
Role of KCTD1 for primary hyperparathyroidismR21AG063377 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI MARNEROS, ALEXANDER GEORG · 2019 to 2020
$436k
NEI NIH HHS R01 EY033360NEI NIH HHS R01 EY033709NIAMS NIH HHS R13 AR009431NIA NIH HHS R21 AG063377NIDDK NIH HHS R01 DK118134NIDDK NIH HHS R01 DK121178
6 · The paper itself

Abstract

Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp skin. Dominant-negative mutations in the genes KCTD1 or KCTD15 cause ACC owing to loss of function of KCTD1/KCTD15 complexes in cranial neural crest cells (NCCs), which normally form midline cranial suture mesenchymal cells that express keratinocyte growth factors. Loss of KCTD1/KCTD15 function in NCCs impairs the formation of normal midline cranial sutures and, consequently, the overlying skin, resulting in ACC. Moreover, KCTD1/KCTD15 complexes in keratinocytes regulate skin appendage morphogenesis.

Indexed as

Ectodermal DysplasiaMorphogenesisAnimalsHumansKeratinocytesMiceMutationNeural CrestScalpSkinCranial neural crest cellsCranial suturesKeratinocyte growth factorsMesenchymal–epithelial interactionsWound

Identifiers

PMID39023472
PMCPMC11891745

What OpenQuestion holds

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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.