research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
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330-360 / 1000+ resultsresearch A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research MiRNA-24 downregulates KLF6 affecting STAT3 protein expression and phosphorylation regulating melanogenesis in cashmere goat coat
miRNA-24 affects goat coat color by controlling proteins involved in pigment production.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research 606 Connecting signaling dynamics with cell fates in live mice
Stem cells control their future role by changing ERK signal timing, affecting tissue regeneration and cancer.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Targeted inactivation of integrin-linked kinase in hair follicle stem cells reveals an important modulatory role in skin repair after injury
Integrin-linked kinase is crucial for normal skin healing.
research A multi-omic single-cell landscape of perinatal mouse skin maps lineage specification and reveals shared dynamics in human fetal skin
Mouse and human skin development share similar fibroblast timelines.
research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Abstract 1026: A non-apoptotic function for Mcl-1 as an activator of canonical Wnt signaling in keratinocytes
Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
research Modulating mechanosensory afferent excitability by an atypical mGluR
A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
research Pyruvate kinase M2 promotes hair regeneration by connecting metabolic and Wnt/β- catenin signaling
Activating PKM2 and Wnt/β-catenin signaling together can potentially enhance hair growth and could be a treatment for hair loss.
research 715 Hunting the hair cycle clock (HCC): Evidence that mitochondrially localized MPZL3 is a key HCC element in murine and human hair follicles
MPZL3 is important for controlling the hair growth cycle in mice and humans.
research Roles of two sphingomyelin synthase isoforms in murine hair
Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.
research CLK1 and its Effects on Skin Stem Cell Differentiation
CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
research Protein kinase Akt2/PKBβ is involved in blastomere proliferation of preimplantation mouse embryos
Akt2 protein is essential for normal cell division in early mouse embryos.
research 1339 Casein kinase 1 inhibition in keratinocytes enhances the migration of melanocyte precursors in the hair follicle via KitL/c-Kit signaling pathway
Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
research Spatial and Temporal Coordination of Force-generating Actin-based Modules Drives Membrane RemodelingIn Vivo
Actin filaments help stabilize and integrate cell membranes during transfer.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research [Expressions and effects of autophagy-related genes in bleomycin-induced skin fibrosis of mice].
Activating autophagy might reverse skin fibrosis.
research MIM and Cortactin Antagonism Regulates Ciliogenesis and Hedgehog Signaling
MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous?
KIT's role in skin cells is not entirely independent, as other cells can influence its function.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Reverse Protein Engineering Of Firefly Luciferase
The protein's size was reduced, but more work is needed to confirm its function.
research ILK modulates epithelial polarity and matrix formation in hair follicles
ILK is essential for proper hair follicle development and structure.