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570-600 / 1000+ resultsresearch Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
research 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Overexpression of hypoxia-inducible factor-1α in hidradenitis suppurativa: the link between deviated immunity and metabolism
Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
research HOXC8 initiates an ectopic mammary program by regulating Fgf10 and Tbx3 expression, and Wnt/β-catenin signaling
Hoxc8 gene helps start mammary gland development by controlling specific signals.
research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research The G-Protein Couple Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
research To Control Site-Specific Skin Gene Expression, Autocrine Mimics Paracrine Canonical Wnt Signaling and Is Activated Ectopically in Skin Disease
The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
research A Novel Epithelial Keratin, hK6irs1, is Expressed Differentially in All Layers of the Inner Root Sheath, Including Specialized Huxley Cells (Flügelzellen) of the Human Hair Follicle
A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
research ANTI‐HAIR KERATIN MONOCLONAL ANTIBODY (HKN‐2)
HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
research CtBP1 Overexpression in Keratinocytes Perturbs Skin Homeostasis
Overexpressing CtBP1 in skin cells causes skin and hair problems.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Tissue resident and follicular Treg cell differentiation is regulated by CRAC channels
CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes
Basonuclin may help control ribosomal RNA gene activity in skin cells.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
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 Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.