research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
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210-240 / 1000+ resultsresearch Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
This study suggests that the residues Val-889 and Arg-752 in the androgen receptor steroid binding domain are crucial for the intermolecular interaction necessary for receptor dimerization and function.
research Keratins: the hair shaft's backbone revealed
This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
research One Transgene: Two Outcomes
In this study, the researchers reported that altering β-catenin signaling in a transgenic mouse model led to changes in skin cell fate, notably converting hair follicle cells into epidermal cells and forming cysts instead of follicles.
research DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE
This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.
research Pten loss in Lgr5+ hair follicle stem cells promotes SCC development
This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.
research The Telomerase Reverse Transcriptase (TERT) Gene Molecular Characterization in Sheep and the Association of Its Variation with Wool Traits
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
research TR3 is preferentially expressed by bulge epithelial stem cells in human hair follicles
TR3 is mainly found in hair follicle stem cells and may be involved in hair loss.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
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.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
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.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
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.
research Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.
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 257 Is EBF1 a negative regulator of WNT10A in the development of androgenetic alopecia?
This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
research Functional analysis of thymosin beta-4 using over-expressing transgenic mice
This study found that over-expression of thymosin beta-4 in transgenic mice accelerated wound healing and hair growth, but did not affect tumor progression despite stimulating tumor metastasis.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
research Conditional Gene Expression in the Epidermis of Transgenic Mice Using the Tetracycline-Regulated Transactivators tTA and rTA Linked to the Keratin 5 Promoter
This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.