99 citations
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May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
64 citations
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March 2004 in “Journal of Clinical Investigation” This study found that inhibiting the enzyme ornithine decarboxylase (ODC) prevented UVB-induced basal cell carcinomas in a mouse model, suggesting ODC is a potential target for chemoprevention strategies.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
This study found that additive discourse markers were the most frequently used type in a sampled news article from The Jakarta Post.
63 citations
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May 2011 in “Clinical cancer research” In this study, topical CUR61414 was effective in inhibiting basal cell carcinomas in mice, but no clinical activity was observed in human trials.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
November 2022 in “Journal of the Endocrine Society” This report discusses the challenges of interpreting bone mineral density in transgender individuals undergoing hormone therapy and highlights the lack of guidelines for assessing fracture risk or BMD results in this population.
7 citations
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January 2022 in “Plants” This study found that extracts from the rice variety Bue Bang 3 CMU, particularly the husk and bran, demonstrated antioxidant, anti-inflammatory, and anti-androgenic properties, suggesting potential use in treating androgenetic alopecia.
September 2025 in “Cermin Dunia Kedokteran” This review highlights the importance of implementing dementia screening and cognitive evaluation in primary care to better prepare healthcare providers for managing cognitive impairment in the aging population.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
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September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study observed that treating hair follicles with BM15766 and 7DHC led to structural damage, disrupted cellular organization, reduced expression of key genes and proteins, and increased apoptosis, in contrast to controls, indicating detrimental effects on hair follicle integrity.
September 2025 in “Indian Dermatology Online Journal” This study describes how comparing the visual characteristics of dermatological conditions to baked goods can aid in memorization and understanding, providing memorable analogies for both diagnosis and patient education.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 1983 in “Journal of the Japan Veterinary Medical Association” This case study of a toy poodle with Cushing syndrome found that after unsuccessful initial treatments, hair growth and symptom alleviation occurred following daily administration of o,p'-DDD, despite initial side effects.
In this study, the researchers analyzed skin samples from Dun Mongolian horses to uncover molecular pathways linked to the "Bider" marking, identifying differential gene expression and several pigment-related signaling pathways that may play key roles in its formation.
December 2011 in “The Diabetes Educator” This article describes how a new blood glucose management service at the NIH Clinical Center improved safety and patient outcomes for hospitalized patients with diabetes.
56 citations
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April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
September 2023 in “Journal of The American Academy of Dermatology” In this study, baricitinib was evaluated for its effectiveness in promoting concurrent regrowth of scalp hair, eyebrows, and eyelashes in patients with severe alopecia areata, showing clinically meaningful responses compared to placebo.
14 citations
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August 2024 in “JBMR Plus” This article emphasizes the importance of using professional judgment when applying educational content to patient care and reports no new research findings.
10 citations
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December 2017 in “Chemosphere” In this study, BPA rapidly increased dendritic spine and synapse densities in cultured rat hippocampal neurons, with involvement of estrogen receptors and ERK1/2 and p38 pathways, but disrupted dihydrotestosterone's effects on synaptic plasticity.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
73 citations
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December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
July 2020 in “Research Square (Research Square)” In this study, researchers found that girls aged 4-8 years with isolated premature thelarche had significantly advanced bone age, with obesity and elevated serum IGF-1 SDS and DHEAS SDS being key independent risk factors.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.