November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
7 citations
,
February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical 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.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
1 citations
,
January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” This article discusses congenital adrenal hyperplasia due to 21 hydroxylase deficiency as a cause of ambiguous genitals in 46XX individuals and reports no new research findings.
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.
15 citations
,
January 1991 in “Mammalian Genome” January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
1 citations
,
August 2021 in “Journal of Investigative Dermatology” ASLAN004 was safe and well-tolerated, supporting further development for treating certain diseases.
21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
September 2020 in “Journal of Health, Medicine and Nursing” This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
March 2021 in “Research Square (Research Square)” This study found that overexpression of the SbbHLH85 gene in sweet sorghum increases root hair growth and Na+ absorption, but negatively affects salt tolerance.
21 citations
,
September 2021 in “New Phytologist” This study found that the transcription factor HB24 plays a critical role in root hair elongation in Arabidopsis thaliana by promoting the conversion of indole-3-butyric acid to indole-3-acetic acid through regulation of IBR1 expression.
November 2020 in “Journal of the American Academy of Dermatology” Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.
This article reviews approved treatments for androgenetic alopecia and reports no new research findings, highlighting the need for further studies.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
126 citations
,
October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
July 2005 in “SKINmed/Skinmed” This study reported that BRL 7660 significantly reduced sebum secretion and acne symptoms in human studies with topical administration, but the placebo effect and commercial pressures halted further investigations.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
12 citations
,
August 2022 in “Stem cell reviews and reports” This study found that PBX1 overexpression reduces hair follicle-derived mesenchymal stem cell senescence and apoptosis by interacting with SIRT1 and PARP1, highlighting a potential mechanism for addressing aging-related diseases.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
This article reports no new findings as it lacks an abstract.
1 citations
,
September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
5 citations
,
December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that engineered high-affinity soluble CD200R agonists, including ARQ-234, showed superior efficacy in reducing immune responses in various preclinical models of inflammatory conditions, suggesting potential as a therapeutic for atopic dermatitis and other related diseases.