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research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia

17 citations , June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology”

The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.

research Aberrant DNA methylation in inflammatory skin diseases

January 2016 in “International Journal of Dermatology and Venereology”

DNA methylation changes are linked to skin diseases with inflammation.

research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix

10 citations , January 2003 in “Dermatology”

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse

12 citations , July 2004 in “Molecular genetics and genomics”

A new mouse mutation causes skin and hair defects due to a gene change.

research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome

January 2023 in “Indian dermatology online journal”

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

research 46,XY DSD due to impaired androgen production

54 citations , April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism”

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice

7 citations , August 2008 in “Immunogenetics”

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

research De novo mutations in monilethrix

26 citations , December 2003 in “Experimental Dermatology”

Specific keratin gene mutations can cause monilethrix.

research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix

June 2010 in “Chinese Journal of Dermatology”

A new gene mutation is linked to monilethrix in the studied family.

research Dermal EZH2 simultaneously orchestrates dermal differentiation and epidermal proliferation during murine skin development

November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Dermal EZH2 controls skin cell growth and differentiation in mice.

research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

87 citations , March 2017 in “Journal of Clinical Investigation”

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum

February 2026 in “Pediatric Dermatology”

research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance

15 citations , June 2012 in “British Journal of Dermatology”

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia

October 2024 in “Cureus”

Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.

research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2

49 citations , August 1999 in “Journal of Investigative Dermatology”

Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.

Zinc Transporter ZIP13 G289R Variant From Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated With Abnormal Hair Quality

research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality

February 2025 in “Journal of Investigative Dermatology”

The ZIP13 variant is linked to abnormal hair quality.

research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations

July 2021 in “British Journal of Dermatology”

This document reported a case of a 13-year-old boy diagnosed with ectodermal dysplasia (ED) due to missing and conical-shaped teeth and abnormal hair texture. Initial genetic testing did not reveal any pathogenic variants, but later whole-genome analysis identified compound heterozygous TSPEAR variants, which are linked to autosomal recessive ED. This condition, characterized by hypodontia, conical teeth, and abnormal hair texture, had only been reported in five cases worldwide at the time. The discovery of the TSPEAR gene's role in ED highlights the importance of revisiting earlier genetic test results as new genes are discovered. The boy's affected sister also benefited from this genetic diagnosis for better management and counseling.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions

research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi”

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic

November 2022 in “Journal of the Endocrine Society”

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix

4 citations , August 2013 in “Chinese Medical Journal”

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands

4 citations , January 2017 in “Acta dermato-venereologica”

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy

April 2017 in “Journal of Investigative Dermatology”

Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.

research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters

November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

MOF controls skin development by regulating genes for mitochondria and cilia.

research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

July 2021 in “Advances in laboratory medicine”

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

43 citations , September 2001 in “Annals of Neurology”

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

research Author response: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ

March 2017

Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.

Roles of Msx and Dlx Homeoproteins in Vertebrate Development

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