Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.

This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.

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.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.

This study found that overexpression of the anti-apoptotic protein Bcl-2 in mice disrupted cell death during the hair cycle, impairing hair regeneration by delaying anagen entry and hair growth.

This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.

This review summarizes current knowledge about Birt–Hogg–Dubé syndrome, discussing recent findings on its pathogenesis and treatment, but reports no new clinical results; the authors emphasize understanding its cutaneous manifestations.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.

CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.

In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This review discusses the dual role of apoptotic vesicles in disease and therapy, emphasizing their potential in cancer treatment and tissue regeneration, but reports no new results.

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.

In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.

This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

This study found that recombinant human ADM2 treatment inhibited cell proliferation and induced apoptosis in human hair follicles, contrasting with the previously documented pro-proliferative and anti-apoptotic functions of ADM2.

BTNL2 helps protect hair follicles from immune attacks.

This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.

This study demonstrated that lactate dehydrogenase activity is notably high in quiescent hair follicle stem cells within mouse skin using a specific enzymatic activity assay.