research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
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research Aromatase deficiency in a male patient - Case report and review of the literature.
This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
research Analysis of the FGF gene family provides insights into aquatic adaptation in cetaceans
This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
research Pan-cancer analysis of microRNA expression profiles highlights microRNAs enriched in normal body cells as effective suppressors of multiple tumor types: A study based on TCGA database
This study identified a set of tumour-suppressive microRNAs (miRNAs), termed 'normomiRs', that are highly expressed in normal tissues but low in tumors, with miR-206 and miR-381 showing significant in vitro cancer inhibition, highlighting their potential for miRNA-replacement therapies across multiple cancer types.
research Expression profile of long non-coding RNA in inner Mongolian cashmere goat with putative roles in hair follicles development
In this study, researchers used high-throughput sequencing to explore lncRNA interactions in cashmere goat hair follicles during embryonic development, finding lncRNAs potentially regulate genes in the Wnt and PI3K-Akt pathways related to hair follicle growth.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
research Regulatory network of ginsenoside biosynthesis under Ro stress in the hairy roots of Panax ginseng revealed by RNA sequencing
Ro stress hindered ginseng root growth and ginsenoside production, but increased certain hormones and affected gene regulation related to plant growth and stress responses.
research Decreased Androgen Receptor Gene Methylation in Premature Pubarche: A Novel Pathogenetic Mechanism?
In this study, reduced androgen receptor gene methylation and shorter CAG repeats in children with premature pubarche may lead to increased hair follicle sensitivity to steroid hormones, potentially causing early pubic hair development.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
research Mrp4, A New Mitogen-Regulated Protein/Proliferin Gene; Unique in this Gene Family for its Expression in the Adult Mouse Tail and Ear1
This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
research THERAPEUTIC HOTLINE: Genetic variations in the androgen receptor gene and finasteride response in women with androgenetic alopecia mediated by epigenetics
This study suggests that genetic variants in the androgen receptor gene may predict which postmenopausal women with hair loss respond to finasteride therapy.
research Gene Expression in Rat Dermal Papilla Cells: Analysis of 2529 ESTs
This study demonstrated that dermal papilla cells are molecularly distinct from fibroblasts and identified many novel molecules, including a new member of the CTGF protein family.
research Differences in cell subsets between sun-exposed and unexposed skin: preliminary single-cell sequencing and biological analysis from a single case
This study investigated single-cell changes in photoaged skin, revealing distinct cell clusters and increased activity in PD-L1 and PD-1 pathways in sun-exposed areas, enhancing understanding of UVA-induced skin damage and potential prevention targets for photoaging and UV-induced skin cancers.
research The Rho guanosine nucleotide exchange factors Vav2 and Vav3 modulate epidermal stem cell function
This study revealed that Vav2 and Vav3 play roles in regulating hair follicle bulge stem cells in normal conditions and cancer stem cell activation and remodeling in mice.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
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.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
research Gene Therapy: Recent Advances and Applications in Dermatology
This review discusses the advancements needed for gene therapy to become commonly used in dermatology and reports no new clinical results.
research Deciphering the cellular landscape and genetic underpinnings of fiber diameter determined by dermal papilla cells in fine-wool sheep
In this study, researchers used single-cell RNA sequencing to map the hair follicle microenvironment in fine-wool sheep, identifying specific cell types and gene expressions that influence wool fiber diameter, with dermal papilla cells playing a significant role in hair follicle development.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
This study found that asebic mice exhibit abnormal sebaceous gland differentiation and insufficient sebum production due to defective regulation of cell processes, despite possessing normally developing sebaceous glands initially.
research Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance
This study suggests that genetic variations in the AMH signal pathway may be linked to susceptibility and phenotype variations in PCOS among women with insulin resistance.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
research The promoter of an androgen dependent gene in the hamster flank organ
This study found that a gene from hamster flank organs is indirectly regulated by androgens, despite lacking direct androgen responsive elements, indicating involvement of androgen-dependent transcription factors.
research The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
This study found that polymorphism of the SHBG gene (rs1799941) is associated with an increased risk of Polycystic Ovary Syndrome in Iraqi women.
research A Signature of Genes Featuring FGF11 Revealed Aberrant Fibroblast Activation and Immune Infiltration Properties in Keloid Tissue
This study found that a key gene signature, including FGF11, highlights the immunologic nature of keloid lesions, distinguishing them from normal fibroblasts and scars.