12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
12 citations
,
August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
May 2026 in “Drug Delivery” This study introduces a co-design framework using finite element analysis to optimize separable bubble microneedles, demonstrating enhanced transdermal and sublingual drug delivery in preclinical models. In vivo results showed faster hair regrowth and glucose lowering in animals, indicating potential improvements over traditional methods.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
September 2024 in “Dermatologica Sinica” This article describes a 10-month-old female with congenital smooth muscle hamartoma, highlighting the importance of differential diagnosis in congenital skin lesions due to potential malignancy risks.
4 citations
,
August 2018 in “Journal of pediatric neurology” This article reviews Becker's nevus syndrome, covering its symptoms, causes, and cosmetic treatment options, without presenting new clinical findings.
4 citations
,
May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
October 2022 in “Amplla Editora eBooks” Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.
May 2019 in “Asian Journal of Pharmaceutical and Clinical Research” This study found a significant association between unhealthy food patterns and higher BMI in young women with PCOS, emphasizing the need for awareness of lifestyle's impact on hormonal and metabolic health.
7 citations
,
September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
September 2016 in “Journal of Dermatological Science” This study found that knockout mice lacking SMS1 showed reduced body weight and hair loss, indicating a role for SMS1 in normal growth and hair health.
4 citations
,
May 2024 in “The Lancet” This study aims to compare the safety and effectiveness of bariatric surgery versus medical care on ovulation rates in women with PCOS and obesity, as current observational data suggests surgery may improve fertility prospects, but no randomized trial has yet confirmed this effect.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
December 2025 in “International Journal of Dermatology” This case report describes a unique instance of late-onset Björnstad syndrome in an 18-year-old female, mimicking androgenetic alopecia, and indicates potential improvement with JAK inhibitor baricitinib, highlighting the need for considering this syndrome in similar cases of patterned hair loss in young individuals.
146 citations
,
February 2012 in “Journal of Clinical Investigation” This review discusses the role of Hedgehog signaling in basal cell carcinoma development and highlights genetic mouse models and potential targeted therapies, but reports no new clinical results.
January 2025 in “Cellular and Molecular Life Sciences” Using mouse hair follicle organoids, this study demonstrated that BMP4 plays a key role in controlling hair follicle coloration and growth, as well as directing Nestin-positive stem cells towards becoming melanocytes, the pigment-producing cells responsible for hair color.
March 2018 in “Gazi medical journal” This study found that adults with β-thalassemia major had a significantly higher prevalence of skin, hair, and nail disorders compared to healthy controls, influenced by factors like age, gender, and ferritin levels.
24 citations
,
December 2019 in “PLoS ONE” This study validated the Black Identity, Hair Product Use, and Breast Cancer Scale (BHBS) as a tool to measure social and cultural factors related to hair product use and perceived breast cancer risk in Black women.
17 citations
,
November 2017 in “PLoS ONE” This study observed dynamic behaviors such as cluster formation, migration, and active proliferation of transplanted bone marrow cells in a mouse model, providing insight into cellular-level changes post-transplantation.
September 2023 in “Journal of the American Academy of Dermatology” This study discusses calcinosis cutis and alopecia totalis, highlighting the need for thyroid disease screening in children with alopecia areata, especially those with a history of Down syndrome or signs of potential thyroid dysfunction.
165 citations
,
December 2004 in “Differentiation” This review discusses the critical role of BMP signaling in the development and regulation of skin and hair follicles and notes that further research could aid therapeutic advances; it presents no new clinical results.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
10 citations
,
January 2016 in “Dermatology” This study found that patients with myotonic dystrophy type 1 developed basal cell carcinomas at a younger age than the general population, suggesting a possible predisposition in this group.
10 citations
,
December 2015 in “International Journal of Dermatology” This study suggests that basal cell carcinoma and trichoblastoma may share differentiation toward the hair follicle, as indicated by strong positivity in CK 15, follistatin, and Bmi‐1 markers.
70 citations
,
December 2004 in “Proceedings of the National Academy of Sciences” This study found that BMP signaling influences hair pigmentation in mice by affecting the Agouti protein and interacts with MC-1R pathways to modulate melanin production.
694 citations
,
April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that topical treatment with 7DHC and BM15766 reduced hair growth in mice compared to those treated with Ethanol/DMSO, and hair did not recover after treatment ceased, alongside increased apoptotic cells and decreased expression of specific genes.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.