research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
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450-480 / 1000+ resultsresearch Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Distribution of human B-defensin 2, TNF-alpha, IL-1 alpha, IL-6 and IL-8 in psoriatic skin
Certain proteins and cytokines are key in causing psoriatic skin issues.
research Re-investigating the Basement Membrane Zone of Psoriatic Epidermal Lesions: Is Laminin-511 a New Player in Psoriasis Pathogenesis?
Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research LB1059 Neuromediators associated with neurogenic skin inflammation promote M2 differentiation of macrophages in human skin ex vivo
Certain substances can help skin cells become anti-inflammatory, aiding in tissue repair.
research 42357 Bullous pemphigoid presenting as erythema multiforme-like targetoid lesions
Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Microtubule associated protein (MAP‐2) expression defines the companion layer of the anagen hair follicle and an analogous zone in the nail unit
MAP-2 is crucial for the structure of hair follicles and nails.
research Faculty Opinions recommendation of Mapping the molecular and structural specialization of the skin basement membrane for inter-tissue interactions.
The skin basement membrane is specialized for different tissue interactions, important for hair growth and attachment.
research Human hair keratin-associated proteins: Sequence regularities and structural implications
Keratin-associated proteins help link filaments and affect keratin's strength.
research MCPIP1 controls effects of myeloid cells on skin carcinogenesis and hair growth
MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Topical Delivery of Protein and Peptide Using Novel Cell Penetrating Peptide IMT-P8
The peptide IMT-P8 can effectively deliver proteins into the skin and cells for potential skin treatments.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
research PBX homeobox 1 enhances hair follicle mesenchymal stem cell proliferation and reprogramming through activation of the AKT/glycogen synthase kinase signaling pathway and suppression of apoptosis
PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research 020 Sphingosine 1-phosphate receptor signalling promotes hair growth and inhibits perifollicular T-cell expansion and immune privilege collapse ex vivo
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Selective Expression of Calcium-Binding Proteins S100A8 and S100A9 at Distinct Sites of Hair Follicles
S100A8 and S100A9 proteins help form hair shafts during growth.
research Characterization and Localization of Side Population Cells in Mouse Skin
Mouse skin has special cells in the epidermis that decrease with age and are linked to keratinocyte stem cells.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research Characterization and expression analysis of the hair keratin associated protein KAP26.1
research C/EBPα and C/EBPβ Are Required for Sebocyte Differentiation and Stratified Squamous Differentiation in Adult Mouse Skin
C/EBPalpha and C/EBPbeta are crucial for normal skin and oil gland cell development in adult mice.
research Expression and Function of Group IIE Phospholipase A2 in Mouse Skin
sPLA2-IIE is crucial for normal hair follicle structure and skin health.
research Isolation and Characterization of a Putative Keratin-Associated Protein Gene Expressed in Embryonic Skin of Mice
The 4C32 gene may help in mouse skin development and differentiation.