research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
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120-150 / 1000+ results research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research JUNB affects hair follicle development and regeneration by promoting the proliferation of dermal papilla cells in goat
JUNB boosts hair growth in goats by helping specific skin cells multiply.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research Loss of Gata6 causes dilation of the hair follicle canal and sebaceous duct
Removing Gata6 causes hair follicle and sebaceous duct enlargement.
research The development of several organs and appendages is impaired in mice lacking Sp6
Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
research Brg1 Governs a Positive Feedback Circuit in the Hair Follicle for Tissue Regeneration and Repair
Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
research Depletion of Gsdma1/2/3 alleviates PMA-induced epidermal hyperplasia by inhibiting the EGFR–Stat3/Akt pathway
Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research Signaling modality within gp130 receptor enhances tissue regeneration
The gp130 receptor helps in tissue regeneration and disease progression, and manipulating it could improve healing and prevent disease.
research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice
A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
research JunB defines functional and structural integrity of the epidermo-pilosebaceous unit in the skin
JunB is crucial for maintaining healthy skin and hair follicles.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Molecular cloning, characterization, and expression of sheep FGF5 gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.