11 citations
,
March 2008 in “Experimental Dermatology” This study identified a thiazolidine dione derivative as a potential inhibitor of 15-PGDH that may enhance prostaglandin activity in hair follicles, suggesting its use to support hair regrowth treatments.
14 citations
,
January 2018 in “Scientific reports” This study demonstrated that bioluminescence imaging of NG2+ cells in transgenic rats allows in vivo monitoring of hair follicle cycles to study hair growth and follicle regeneration.
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.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
October 2020 in “Pediatrics in Review” This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
28 citations
,
May 2015 in “Molecular Neurobiology” LSD1 is crucial for regenerating hair cells in zebrafish.
This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting Wnt/β-catenin signaling disrupted hemidesmosome organization in keratinocytes, suggesting potential therapeutic targets for HD-defective diseases like epidermolysis bullosa.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This review discusses the skin and systemic conditions associated with Down syndrome and reports no new clinical results, emphasizing the need for awareness of these manifestations in diagnosis.
April 2021 in “Journal of Investigative Dermatology” This trial found that intradermal injections of the Hair Stimulating Complex were well-tolerated and effectively stimulated hair growth and prevented hair loss in male pattern baldness participants over 18 weeks.
9 citations
,
November 2012 in “Biomolecules & therapeutics” This study found that diphlorethohydroxycarmalol significantly increased prostaglandin $E_2$ synthesis in HaCaT human keratinocytes by upregulating COX-1 and COX-2 expression, suggesting potential benefits from elevated $PGE_2$ production.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
28 citations
,
November 2013 in “Cell and Tissue Research” 44 citations
,
October 2016 in “Epilepsia” This study demonstrated that the glycolytic inhibitor 2-deoxy-D-glucose enhances antiseizure effects by potentiating extrasynaptic tonic GABAergic inhibition through neurosteroidogenesis in hippocampal slices.
25 citations
,
February 2021 in “Diabetes” This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
92 citations
,
February 2005 in “Journal of Investigative Dermatology” December 2004 in “Differentiation” 79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
4 citations
,
July 2019 in “Experimental Dermatology” In this study, 2-deoxy D-glucose did not prevent the progression of alopecia areata or promote hair regrowth in a mouse model despite its efficacy in other autoimmune conditions.
35 citations
,
April 1998 in “PubMed” This study found that activating the erbB-2 oncogene in transgenic mice led to severe skin abnormalities and fatal defects, indicating erbB-2's significant role in skin and hair follicle development.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
21 citations
,
January 1995 in “Molecular Biology Reports” This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
September 2012 in “Hair transplant forum international” This piece celebrates the 20th anniversary of the ISHRS, noting its success in uniting hair restoration surgeons and highlighting the current exciting developments in the field.
10 citations
,
February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.
1 citations
,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.