research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
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450-480 / 1000+ results research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Abstract 5357: Targeting mTORC1 suppresses proliferation of keratinocyte stem cells and inhibits skin tumor promotion in mice
Blocking mTORC1 reduces skin tumor growth in mice.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research The secret identities of TMPRSS2: Fertility factor, virus trafficker, inflammation moderator, prostate protector and tumor suppressor
TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
research AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
AP-2α and AP-2β are crucial for healthy skin and hair.
research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
research PCA: A tFNA-based targeted nucleic acid nanocomposite hydrogel for the treatment of androgenetic alopecia through the promotion of angiogenesis and hair follicle stem cell proliferation
PCA hydrogel promotes hair growth by enhancing blood vessel formation and hair follicle stem cell activity.
research Abstract ED05-04: Presurgical models to effectively screen preventive agents
Presurgical models can effectively and affordably screen cancer prevention agents.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research 1409 Temporary cell cycle arrest by ALRN-6924: A novel, p53-targeting strategy to protect human scalp hair follicles against cyclophosphamide-induced alopecia
ALRN-6924 can protect hair follicles from chemotherapy damage by temporarily stopping cell division.
research The SYP123-VAMP727 SNARE complex is involved in the delivery of inner cell wall components to the root hair shank in Arabidopsis
The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
research The Arabidopsis Receptor-like Kinase CAP1 Promotes Shoot Growth under Ammonium Stress
CAP1 helps Arabidopsis plants grow better under ammonium stress.
research Faculty Opinions recommendation of Modulation of phospholipid signaling by GLABRA2 in root-hair pattern formation.
GLABRA2 represses root hair formation by inhibiting a specific gene.
research Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family
KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
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 Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potential
The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
research First-in-Man Clinical Trial of the Oral Pan-AKT Inhibitor MK-2206 in Patients With Advanced Solid Tumors
MK-2206 was safe and effectively blocked AKT signaling in cancer patients, warranting more trials.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Disorders of Hair
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