15 citations
,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses the potential of induced pluripotent stem cells (iPSCs) for generating skin components, particularly for genetic skin disorder modeling and gene-corrected regenerative therapies, but reports no new clinical results.
7 citations
,
April 2012 in “Biomolecular concepts” This article reviews the role of keratins in epithelial function and structure, discussing their involvement in growth control, organelle functions, and pathomechanisms of disorders, but reports no new clinical results.
3 citations
,
October 2021 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the epidemiology, risk factors, clinical features, and management of scalp melanomas, highlighting their high mortality rates and specific challenges in diagnosis and treatment; it reports no new research findings.
15 citations
,
December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
15 citations
,
February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
73 citations
,
June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
64 citations
,
November 2012 in “EMBO reports” This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
29 citations
,
May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.
27 citations
,
June 2013 in “Genes & development” This study found that L-type channel blockers can induce hair growth in Timothy syndrome by overcoming delays in anagen phase, suggesting a potential therapeutic role for tissue regeneration.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
13 citations
,
February 2010 in “Stem Cell Reviews and Reports” Stem cells compete for space using cell adhesion, and mutations can affect their competitive success, with implications for tissue health and disease.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
4 citations
,
January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
October 2022 in “BMC genomics” This study investigated adenosine-to-inosine RNA editing in the hair follicle cycle of Tianzhu white yak, identifying numerous editing sites and suggesting their involvement in pathways related to hair growth.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
December 1991 in “Annals of the New York Academy of Sciences” This article discusses themes in the molecular structure of hair and reports no new research findings.
309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
52 citations
,
July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
1 citations
,
January 2015 in “The Journal of Dermatology” This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
July 2024 in “Journal Archives of Health” This study reviewed the medical literature on generalized woolly hair and reported that while there are no effective treatments, some narratives suggest that topical Minoxidil may help with hypotrichosis associated with the condition.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the ablation of Tet2/Tet3 genes in mouse skin epithelial cells led to altered hair shape and length, highlighting their role in regulating hair follicle gene expression and chromatin structure.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.
5 citations
,
January 2020 in “Research journal of pharmacy and technology” This review explores the potential benefits of non-psychoactive Cannabidiol for reducing stress and pain associated with Polycystic Ovarian Syndrome and reports no new clinical findings.
119 citations
,
November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
53 citations
,
June 2012 in “Annales d'Endocrinologie” This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.