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research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research [Expression pattern of mTOR subunits Raptor and Rictor in mouse hair follicle cycle].
Raptor and Rictor have stable expression in hair cycles, with Raptor marking stem cells and Rictor involved in hair shaft formation.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Identification of the C-terminal tail domain of AHF/trichohyalin as the critical site for modulation of the keratin filamentous meshwork in the keratinocyte
The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
research Exosomes Derived from Dermal Papilla Cells Mediate Hair Follicle Stem Cell Proliferation through the Wnt3a/β-Catenin Signaling Pathway
Exosomes from dermal papilla cells help hair follicle stem cells grow and survive.
research 1426 Deletion of hoxc13 in frogs reveals key steps in the molecular evolution of cornified skin appendages
Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
research Additional file 11 of Time-course RNA-seq analysis reveals stage-specific and melatonin-triggered gene expression patterns during the hair follicle growth cycle in Capra hircus
Melatonin affects when and how certain genes work during the different stages of goat hair growth.
research The Roles of the Lrig1- and Lgr6-Positive Stem Cells in the Skin and the Functions of the Molecular Markers That Define Them
Lrig1 and Lgr6 stem cells help maintain hair follicles and influence skin cancer development.
research Human Hair Keratin‐Associated Proteins (KAPs)
Keratin-associated proteins are crucial for hair strength and structure.
research A Possible Role of Keratinocytes of Skin and Mucous Membranes in Prion Propagation and Transmission
Skin cells might help spread prion diseases like Creutzfeldt-Jakob disease.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research [An immunohistochemical study on the normal human skin using an anti-hair keratin monoclonal antibody (HKN-2)].
research Network analysis reveals potential mechanisms that determine the cellular identity of keratinocytes and corneal epithelial cells through the Hox/Gtl2-Dio3 miRNA axis
Hox proteins help maintain keratinocyte identity by regulating miRNA expression.
research The transcription elongation factors Spt4 and Spt6 promote dermal adipocyte differentiation
Spt4 and Spt6 are essential for fat cell development.
research 177 The Striatin-Interacting Phosphatase And Kinases complex is important for skin epidermal differentiation and barrier formation
The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
research Human Hair Keratins.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Transient stimulation of TRPV4‐expressing keratinocytes promotes hair follicle regeneration in mice
Activating TRPV4 in skin cells helps regrow hair in mice, possibly offering a treatment for hair loss.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Keratins of the human occipital hair medulla: androgenic regulation ofin vitrohair keratin K37 expression
Androgens significantly regulate hair keratin K37 expression.
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.