research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
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900-930 / 1000+ results research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research SOCS1 and SOCS3 as key checkpoint molecules in the immune responses associated to skin inflammation and malignant transformation
SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research sPLA2-IIA Overexpression in Mice Epidermis Depletes Hair Follicle Stem Cells and Induces Differentiation Mediated Through Enhanced JNK/c-Jun Activation
Overexpression of sPLA2-IIA in mouse skin reduces hair stem cells and increases cell differentiation through JNK/c-Jun pathway activation.
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
Gene variant linked to prostate cancer, hormone levels, and hair loss.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Protease-Activated Receptor-1 (Thrombin Receptor) Is Expressed in Mesenchymal Portions of Human Hair Follicle
PAR-1 may play a role in hair growth regulation in human hair follicles.
research The Glypican-1/HGF/C-Met and Glypican-1/VEGF/VEGFR2 Ternary Complexes Regulate Hair Follicle Angiogenesis
Glypican-1 is important for blood vessel growth in hair follicles and could help treat hair loss.
research Proprietary Herbal Extract Downregulates the Gene Expression of Il-1 and #945; in HaCaT Cells: Possible Implications Against Nonscarring Alopecia
A herbal extract may help treat certain types of hair loss by reducing a specific gene's activity.
research Phospholipase C‐δ1 is an essential molecule downstream of Foxnl, the gene responsible for the nude mutation, in normal hair development
Phospholipase C-δ1 is crucial for normal hair development.
research [Effects of collagen type ⅩⅦ α1 on epidermal stem cells in aging skin and the microRNA intervention mechanism].
Collagen type XVII α1 decreases with age, leading to skin aging, but targeting microRNA-203b-3p may help maintain its levels and improve skin health.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research CLK1 and its Effects on Skin Stem Cell Differentiation
CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
research DAB-labelling for collagen type III and PDGFR as control on equine skin sections.
DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
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 Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Dual role of laminin‑511 in regulating melanocyte migration and differentiation
Laminin-511 is essential for proper melanocyte movement and development in mice.
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 CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.