Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

This article reviews pulmonary arterial aneurysms in Behçet's disease and cites previous case reports, but it presents no new data or clinical findings.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.

This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.

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, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.

In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.

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

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

This study found that overexpression of the SbbHLH85 gene in sweet sorghum increases root hair growth and Na+ absorption, but negatively affects salt tolerance.

This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.

This study found that CD2 could be a potential new therapeutic target for treating patchy-type alopecia areata, suggesting the need for further research into its role.

This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.

This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.

This study generated a Dct-H2BGFP mouse model that allows for effective identification and isolation of melanocytic cells in vivo, facilitating research into their molecular and biological properties.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.

This article describes a case of dyschromatosis universalis in a young Saudi Arabian girl, discussing similar cases reported outside the Far East where the condition was initially identified, but provides no new research findings.

This case study describes a unique instance of warty dyskeratoma involving two adjacent hair follicles within one lesion.

This study introduced a new technique, 2Phatal, enabling precise apoptotic cell ablation in living animals, revealing unique cell-type differences in apoptosis-related dynamics.

GLABRA2 represses root hair formation by inhibiting a specific gene.

This review discusses recent advances in understanding acne pathobiology, highlighting the potential for developing new customized therapies, but it reports no new clinical findings.

This review discusses the role of the skin microbiome in maintaining health and modulating atopic dermatitis, emphasizing the need for novel therapeutic strategies, but reports no new clinical results.

Adequate vitamin D is crucial for skin health and should be considered in dermatology.