Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study observed that overexpression of Bcl-2 in certain transgenic mice accelerates catagen progression and increases hair follicle apoptosis and alopecia, while Bcl-2 deficient mice show delayed hair growth and pigmentation changes.

This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

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.

This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

This study reports that treatment with X-rays or procarbazine induced dose-dependent mutations in melanocytes in mouse hair follicles, showing similar mutation rates to previous methods.

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.

This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

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.

In this study, a somatic KRAS mutation was identified in a Korean infant with nevus sebaceus and associated extracutaneous manifestations, suggesting a diagnosis of nevus sebaceus syndrome.

This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.

This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.

This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.

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.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

In this study, researchers found that BST2 expression is significantly upregulated in skin sections of mice with alopecia areata, implicating BST2's role in the disease pathogenesis through the action of epidermal γδ T cells and macrophages.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.