research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
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research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling
This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening
This study identified polymorphisms in HGT-KRTAP7-1 and KRTAP8-1 genes in Argentine llamas that may impact fiber characteristics by altering amino acid residues critical for keratin-associated protein properties.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.
research A Neonate with Blisters
This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata
In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
research Rand Protease: The Role of Calcium-Binding Site on Stability with Mutagenesis and The Effectiveness on Leather Dehairing
In this study, researchers used in silico mutagenesis to identify key calcium-binding sites influencing the stability of Rand protease from Bacillus subtilis, potentially enhancing its application in industries like leather dehairing by improving stability and eliminating the need for additional metal ions during the process.
research 0497 Periderm without IRF6: To be or not to be
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
research 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa
Scalp hair follicle cells help protect and heal skin in certain skin conditions.
research Identification and characterization of genes for skin and hair disorders
This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.
research Cutaneous hydroxystereoid dehydrogenases and rat-hair-cycle
Certain enzymes react strongly with some hormones in rat skin during hair growth, mainly in sebaceous glands and hair sheaths.
research Inherited Epidermolysis Bullosa: A Clinical Case
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.
research Ectodysplasin research—Where to next?
This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
research 7DHC and BM15766 treated mice (C57BL/6; n = 5) failed to regrow the hairs.
This study found that topical treatment with 7DHC and BM15766 reduced hair growth in mice compared to those treated with Ethanol/DMSO, and hair did not recover after treatment ceased, alongside increased apoptotic cells and decreased expression of specific genes.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
research Isolation and Molecular Cloning of Epidermal- and Hair Follicle-Specific Peptidylarginine Deiminase (Type III) from Rat
In this study, researchers purified and cloned rat peptidylarginine deiminase type III, demonstrating its activity and specific expression in the epidermis and hair follicles.
research Class IIa HDAC4 and HDAC7 cooperatively regulate gene transcription in Th17 cell differentiation
This study found that selectively targeting HDAC4 and HDAC7 in mice can reduce Th17 cell-mediated intestinal inflammation, suggesting a potential treatment approach for Th17-related inflammatory diseases like ulcerative colitis.
research Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research Few Simple Sequence Repeats in Human Hair
This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.
research KRT16 wt Allele
This abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.