research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
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540-570 / 1000+ results research Mesenchymal Meis2 controls whisker development independently from trigeminal sensory innervation
Mesenchymal MEIS2 is essential for whisker development without needing sensory nerves.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Developmental and evolutionary comparative analysis of a regulatory landscape in mouse and chicken
Gene regulation evolved differently in mouse and chicken skin, but remained stable in their trunks.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Tenascin expression in normal human adult skin and skin appendage tumours
Tenascin is present in normal skin and certain skin tumors but not in sebaceous glands or their tumors.
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 Studies of E2s Related to Unconventional Ubiquitination in Arabidopsis thaliana
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling
Trps1 plays a key role in hair follicle development and cycling.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research SOX2 in the Skin
SOX2 is crucial for skin cell function and hair growth, and it plays a role in skin cancer and wound healing.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
The Apc gene is crucial for normal skin and thymus development.
research Retardation of Hair Follicle Development by the Deletion of TrkC, High-Affinity Neurotrophin-3 Receptor
Lack of TrkC receptor delays hair follicle development.
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 CUTANEOUS T-CELL LYMPHOMA
The document concludes that DAB389-IL2 is promising for treating refractory cutaneous T-cell lymphoma, but more research is needed on its effectiveness and side effect management.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Type II Keratins Are Phosphorylated on a Unique Motif during Stress and Mitosis in Tissues and Cultured Cells
Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
research The co-expression pattern of VEGFR-2 with indicators related to proliferation, apoptosis, and differentiation of anagen hair follicles
VEGFR-2 activation is likely involved in hair follicle growth, survival, and development.
research The molecular pathogenesis of Trichilemmal carcinoma
Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.