Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.

This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.

In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.

This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.

In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

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, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.

This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.

In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.

This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.

This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.

This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.

This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.

This study found that decreased TRPS1 expression in balding dermal papilla cells may impair their signaling ability, contributing to hair follicle miniaturization in androgenic alopecia.

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.

This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.

This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.

In this study, Brca1(S971A/S971A) mice showed a moderately increased risk of spontaneous tumor formation and defects in DNA damage response, suggesting CHK2 phosphorylation of BRCA1 is crucial for tumor suppression.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.