58 citations
,
November 1969 in “British Journal of Dermatology” This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.
140 citations
,
February 2014 in “Neuron” This study found that the opioid system, particularly via the delta opioid receptor, broadly regulates cutaneous mechanosensation, including touch, and suggests targeting this receptor could alleviate injury-induced mechanical hypersensitivity.
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.
28 citations
,
March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” This report describes a rare case of porokeratotic eccrine ostial and dermal duct nevus in a 64-year-old woman, successfully treated with CO₂ laser, highlighting its potential occurrence in older adults.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
1 citations
,
April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, FOL-026, a peptide based on osteopontin, was shown to promote angiogenesis and stimulate vascular cell proliferation and migration through neuropilin-1, similar to VEGF, suggesting potential therapeutic applications in vascular repair and angiogenesis-related conditions.
7 citations
,
January 2009 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study found that D-004, a hexanic extract from the Cuban royal palm fruit, did not cause genotoxic effects in male germ cells of mice over an 8-week period.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
February 2026 in “European Urology” January 2004 in “Indian Journal of Nephrology”
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study reports a novel geometric medicine solution, N‑K GM SERIES, claiming to eliminate aflatoxin, offer a universal cancer cure, and provide numerous health benefits, including increased life expectancy, with deployment focused on the "Aflatoxin Belt" regions like Sudan.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
September 2019 in “Journal of Investigative Dermatology” This clinical trial found that Sandalore® 1% significantly reduced hair shedding and increased hair volume and anagen hair follicles in women with telogen effluvium compared to placebo.
11 citations
,
November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
9 citations
,
November 2013 in “Dermatologic Surgery” Hair transplant complications were likely due to deep graft placement and rough handling.
April 2018 in “Journal of Investigative Dermatology” This study suggests that weekly oral finasteride may be a promising alternative to isotretinoin for treating nodulocystic acne, showing substantial improvements with lower incidence of sexual dysfunction.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
40 citations
,
January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
March 2026 in “World Rabbit Science” This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.
1 citations
,
October 2019 in “International journal of contemporary pediatrics” This case report highlights a 12-year-old boy with twenty nail dystrophy in isolation, emphasizing the need for thorough physical exams to distinguish nail disorders and provide appropriate management and counseling on the condition's benign nature and good prognosis.
4 citations
,
January 2015 in “Journal of analytical & bioanalytical techniques” This study developed a rapid and sensitive method for determining finasteride concentrations in pharmaceuticals, with results comparable to those from the standard HPLC method.
July 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study found that finasteride delivered through a nano-transferosomal gel showed improved penetration through skin layers compared to a conventional gel, suggesting a potential alternative for oral administration.
76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
20 citations
,
December 2000 in “Fertility and Sterility” This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.
October 2017 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study found that finasteride induced infertility and increased endoplasmic reticulum stress in rats, but these effects were mitigated by DA-9401 administration.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
2 citations
,
August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
81 citations
,
July 2012 in “Translational Psychiatry” In this pilot study, no significant differences were observed between memantine and placebo groups in young adults with Down syndrome on the primary memory outcomes, but some improvement was noted in a secondary measure.