Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.

This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.

This report presents a case of hereditary elliptocytosis in a 37-year-old woman with iron deficiency anemia, identifying a high percentage of elliptocytes in her blood after treatment.

This study observed that different alkaline buffers had a significant impact on the volume of liquid consumed by fall armyworm larvae, emphasizing the importance of measuring imbibed volumes to reduce dose errors in bioassays.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

This study found that epidermal growth factor receptor inhibitors can induce erosive pustular dermatosis of the scalp, typically appearing sooner and affecting the scalp more extensively compared to other triggers.

This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.

This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.

This study found that EGFR signaling modulates GLI target gene expression, potentially influencing outer root sheath cell specification and hair growth, and may have implications for cancer.

This study found that the E6 gene, but not E7, was responsible for HPV8-induced expansion of keratinocyte stem cells in hair follicle junctional zones in mice.

In this ex vivo study, inhibiting Ezh2 with a small molecule slowed human hair growth by decreasing proliferation and increasing apoptosis in the outer root sheath.

In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.

This study describes three cases of acneiform eruptions from EGFR inhibitors that improved with topical recombinant human EGF, suggesting its potential as a treatment option for this side effect.

This review discusses the molecular biology, diagnosis, and pathology of epidermolysis bullosa in animals and reports no new clinical findings.

This study found that ectodermal precursor cells derived from human induced pluripotent stem cells may enhance hair follicle morphogenesis through improved epithelial-mesenchymal interactions when cocultured with dermal cells.

This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.

In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.

This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.

This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.

This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

Nelfb is essential for dermal fat development and survival.

In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.

This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.

In this study, EREG promoted hair growth by activating specific receptors in cell and animal models, indicating it may be a potential treatment for hair loss.

This study found that CRABP1, Nestin, and Ephrin B2 are expressed in both the tumor stroma and invasive front of skin adnexal tumors and basal cell carcinomas.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.