48 citations
,
July 1988 in “PubMed” In this study, researchers observed that rhino mice exhibit significant ductal hyperkeratinization in the meibomian gland, which may represent the first naturally occurring disorder of this gland in mice.
125 citations
,
February 2007 in “The EMBO Journal” Fgfr2b helps maintain healthy skin and prevent cancer.
21 citations
,
September 2013 in “Pediatric Dermatology” This case report describes three patients with Netherton syndrome who experienced growth hormone deficiency and improved growth rates following growth hormone therapy.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
This study demonstrated that a ligand-independent action of the vitamin D receptor significantly affects keratinocyte behavior in hair follicles and skin, pointing to its crucial role in maintaining normal hair and skin structures in rats.
This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.
231 citations
,
October 1999 in “Journal of Clinical Investigation” This study found that administering an adenovirus vector to increase Sonic hedgehog gene expression in mouse skin accelerated the transition of hair follicles into the growth phase, promoting hair growth.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
178 citations
,
May 2006 in “Developmental Dynamics” This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
107 citations
,
August 2012 in “Seminars in Cell & Developmental Biology” This review discusses the role of signaling networks in sebaceous gland development and disorders, highlighting recent insights from mouse models and cell line studies, but reports no new experimental results.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
14 citations
,
November 2020 in “International Journal of Molecular Sciences” This review article summarizes the potential role of advanced medical therapies—using genes, cells, and/or tissue engineering—in treating various types of alopecia, by examining clinical research, basic studies, and ongoing trials.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
10 citations
,
April 2020 in “Clinics in Dermatology” This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” In this study, a somatic KRAS mutation was identified in a Korean infant with nevus sebaceus and associated extracutaneous manifestations, suggesting a diagnosis of nevus sebaceus syndrome.
2 citations
,
March 2024 in “Pediatric Dermatology” This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
1 citations
,
May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
1 citations
,
August 2019 in “Pediatric dermatology” This study reports that topical minoxidil 5% foam may effectively promote hair growth in congenital alopecia and hypotrichosis linked to desmoplakin mutations, as demonstrated by significant hair growth in an 8-year-old boy.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” This study found that VEGF-deficient keratinocytes can form tumors using different aneuploidy and signaling patterns, highlighting VEGF's role beyond angiogenesis in tumor cell growth and survival.
January 2025 in “International Journal of Molecular Sciences” This study showed that vitamin D receptor gene-deficient rats exhibit hair loss and skin abnormalities due to differences in gene and protein expression patterns, while ligand-independent VDR action is crucial for normal hair cycle maintenance and skin formation.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
January 2009 in “Hair transplant forum international” This article involves an interview with dermatologist Rodney Sinclair and provides no new research findings.
694 citations
,
April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
55 citations
,
April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.