May 2025 in “Dermatology Reports” In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.
April 2018 in “Journal of Investigative Dermatology” This study suggests that the Leptin receptor may serve as a novel cell surface marker for dermal papilla cells, potentially aiding future isolation and research efforts in hair follicle regeneration studies.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
7 citations
,
February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
November 2025 in “Journal of Investigative Dermatology” IMG-007 helps regrow hair and reduce scalp inflammation in severe alopecia areata.
32 citations
,
January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
3 citations
,
May 2020 in “Journal of Cellular and Molecular Medicine” This study identified critical roles for the gene GREM1 in the differentiation and expansion of endothelial progenitors derived from human urinary induced pluripotent stem cells.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
22 citations
,
January 2014 in “Journal of Interferon & Cytokine Research” In this study, researchers found that specific IL18 genetic variants may be linked to increased susceptibility to alopecia areata in a Korean population.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
April 2017 in “Journal of Investigative Dermatology” In this study, HPH-15, a newly synthesized compound, demonstrated potential in reducing skin fibrosis in a mouse model by targeting underlying pathogenic mechanisms and exhibited a good safety profile, warranting further clinical trials for fibrotic skin disorders like systemic sclerosis.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study analyzed pediatric and adult patients with antibody deficiencies at a PID center, finding frequent severe infections and genetic mutations, with treatment primarily involving IVIG replacement therapy.
April 2018 in “Journal of Investigative Dermatology” This study found that high skin expression of amphiregulin in acute graft-versus-host disease was associated with severe disease grade, poor overall survival, and increased non-relapse mortality.
43 citations
,
April 1996 in “Journal of Investigative Dermatology” This study found that genetic ablation of Tslp in an AEC mutant mouse model reduced skin inflammation and improved survival, suggesting potential therapeutic benefits for AEC syndrome patients.
April 2018 in “Journal of Investigative Dermatology” This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.
13 citations
,
September 2019 in “Scientific Reports” In this study, high levels of the protein Flii in mice were associated with worsened symptoms and inflammation in ulcerative colitis, suggesting Flii may inhibit mucosal healing.
7 citations
,
January 1998 in “EXPERIMENTAL ANIMALS” This study found no significant differences in lectinhistochemical characteristics of the dorsal skin epidermis between hypotrichotic WBN/Ila-Ht rats and Wistar rats, except for varying lectin binding intensity.
July 2020 in “Research Square (Research Square)” This study identified 21 candidate genes linked to immunoglobulin levels in colostrum and serum of dairy cattle, suggesting potential for genetic selection to enhance immunity.
4 citations
,
August 2022 in “Cells” This study found that the lncRNA lncRNA2919 is involved in hair follicle regeneration by downregulating growth-related genes, inhibiting cell proliferation, and promoting apoptosis in rabbit dermal papilla cells.
This study found that activating Toll-like receptor 3 signaling in periodontal ligament stem cells may enhance their immunomodulatory properties, suggesting potential implications for future stem cell therapy applications.
This study identified significant differences in KIR gene profiles between SLE patients and controls, suggesting that specific KIR genes could serve as biomarkers for disease severity in Indian SLE patients.
100 citations
,
November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
16 citations
,
January 2020 in “Annals of the rheumatic diseases” In this study, baricitinib improved the resolution of arthritis or rash in patients with systemic lupus erythematosus, but outcomes for skin involvement like alopecia were not reported.
77 citations
,
April 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews the role of IL-17 in inflammatory skin disorders and highlights its potential therapeutic targeting in both neutrophilic and lymphocyte-mediated conditions, reporting no new experimental results.
April 2018 in “Journal of Investigative Dermatology” This study found that IL-9 influences the behavior of human primary keratinocytes by promoting motility while reducing invasion potential through a novel mechanism independent of matrix-metalloproteinases.
4 citations
,
August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.