research Cleave but not leave: Astrotactin proteins in development and disease
This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
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research Hairless is a nuclear receptor corepressor essential for skin function
This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
research PNKP is required for maintaining the integrity of progenitor cell populations in adult mice
This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.
research Nuclear Topology, Epigenetics, and Keratinocyte Differentiation
This review discusses the dynamic changes in chromatin organization and nuclear morphology during cellular processes like differentiation and disease, highlighting recent advances in understanding these epigenetic mechanisms without presenting new experimental findings.
research Roles of jumonji and jumonji family genes in chromatin regulation and development
This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
research Myotonic Dystrophy—A Progeroid Disease?
This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
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 Hair-specific expression of chloramphenicol acetyltransferase in transgenic mice under the control of an ultra-high-sulfur keratin promoter.
This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.
research WNT10B (wingless-type MMTV integration site family)
The review discusses the diverse roles of WNT10B in mammary gland development, immune function, and its potential implications in cancer and regenerative processes, with no new experimental results.
research Nelfb promotes dermal white adipose tissue formation through RNA Polymerase II mediated adipogenic gene regulation
In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.
research 671 The adenosine-generating ecto-enzyme, CD73, functions as an intrafollicular regulator of human hair growth
CD73 may regulate hair growth and could be targeted for hair growth treatments.
research Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
This review discusses the expanding understanding of TRPV3's role in pain and skin pathology, while highlighting the need for further pharmacological research to fully resolve its functions.
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 μ-Crystallin in Mouse Skeletal Muscle Promotes a Shift from Glycolytic toward Oxidative Metabolism
This study found that high levels of μ-crystallin in skeletal muscle are associated with greater fat metabolism and a shift in gene expression towards slower muscle function.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
research 616 Endoplasmic reticulum stress upregulates NKG2D ligands in the hair follicle
This study suggests a connection between the unfolded protein response and upregulation of NKG2D ligands in stressed hair follicles, highlighting a potential role of PRDX5 in alopecia areata pathogenesis.
research New Nonsteroidal Molecules as Blockers of the Steroidogenic Pathway
This study found that two novel nonsteroidal derivatives inhibited specific enzymes in vitro and in vivo, leading to dihydrotestosterone accumulation in androgen-dependent glands, suggesting potential therapeutic use for mood improvement in the elderly.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
research Heterogeneity of ornithine decarboxylase expression in 12-O-tetradecanoylphorbol-13-acetate-treated mouse skin and in epidermal tumors
This study found that TPA treatment transiently induces high levels of ODC in mouse epidermal cells, particularly around hair follicles, with localization reduced by retinoic acid or cycloheximide pretreatment.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research 854 CCL5 affects the hair-inductive capacity of three-dimensional (3D)-cultured dermal papilla cells
This study suggests that alkaline phosphatase-regulated expression of CCL5 contributes to the trichogenicity of human dermal papilla spheres.
research Chi-miR-130b-3p regulates Inner Mongolia cashmere goat skin hair follicles in fetuses by targetingWnt family member 10A
This study confirmed that chi-miR-130b-3p regulates the proliferation of epithelial cells and dermal fibroblasts by targeting the WNT10A gene, which may help maintain hair follicle structure.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.