Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This study observed significant differences in skin fungal communities between healthy and alopecic cynomolgus macaques, suggesting certain microorganisms may be associated with alopecia in these primates.

This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.

This study found that mTOR signaling plays a crucial role in activating hair follicle stem cells by balancing BMP-mediated repression, essential for hair regeneration.

This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.

This article discusses the role of external beam radiotherapy as a primary treatment method for cancer and reports no new clinical findings.

In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.

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.

In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.

This study found that the Arabidopsis cation chloride cotransporter CCC1 is critical for regulating pH in the trans-Golgi network/early endosome, impacting plant growth and stress response.

This study found that Wnt10b promotes melanocyte maturation and pigmentation in the hair bulbs of mice by activating canonical Wnt signaling.

This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.

This review discusses the proposed shift from PCOS to PMOS, emphasizing a comprehensive approach to diagnosis and management, but reports no new clinical results.

In this study, silencing BMAL1 and PER1 genes increased melanogenic activity in follicular and epidermal melanocytes, suggesting that peripheral circadian clocks may regulate melanin pigmentation.

This study found that early pigment cell markers Sox10 and c-KIT, as well as DCT/TRP-2, were detectable in melanogenically-active melanocytes of the anagen bulb in human hair follicles.

In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.

This study found that BMP receptor IA is crucial for hair progenitor cell differentiation in mice, and its sequential inhibition and activation are necessary to generate a functioning hair shaft.

This study provides a detailed cellular atlas of cutaneous squamous cell carcinoma, indicating that different fibroblast subtypes play roles in tumor progression and suppression, with potential biomarkers identified for HPV-related tumor growth.

This study found that the expression of LRIG1 in Merkel cell carcinoma tumors was associated with improved overall and cancer-specific survival.

This study observed that the OCIAD2 and DCN genes in Liaoning cashmere goats have opposite effects on hair growth by interacting with the TGF-β signaling pathway, influencing follicle morphogenesis and periodic changes.

The researchers reported that SOX4 expression is significantly upregulated in melanoma and its knockdown in cell lines resulted in reduced tumor progression, suggesting potential for targeted therapies.

The researchers reported that the OVOL1-OVOL2 axis may play a role in hair follicle differentiation and tumorigenesis, and OVOL1 and OVOL2 are potential diagnostic markers for pilomatricoma and pilomatrix carcinoma.

This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.

This study found that BMP signaling is involved in regulating melanogenesis, pigment transfer, and melanocyte migration, contributing to our understanding of skin pigmentation mechanisms.

This review discusses new developments in understanding the structure and properties of keratin fiber cell membrane complexes, without reporting new experimental results.

This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.

This study highlights the role of Orai1 in ameloblast differentiation and maturation, showing that its down-regulation affects cell proliferation and enamel formation during tooth development.

In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.

This study observed that a 24-hour pre-treatment with MitoQ significantly protected H9c2 myoblasts from doxorubicin-induced damage while enhancing doxorubicin's effectiveness in prostate cancer cells, outperforming dexrazoxane's effects without compromising the anti-cancer efficacy.

This study found that PRC1 plays crucial roles in skin epithelial stem cell regulation, with catalytic and non-catalytic functions impacting epidermal integrity, hair development, and Merkel cell dynamics in murine models.