research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
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research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Targeted inactivation of integrin-linked kinase in hair follicle stem cells reveals an important modulatory role in skin repair after injury
Integrin-linked kinase is crucial for normal skin healing.
research Abstract 1489: Basal cell carcinomas express functional indoleamine 2,3-dioxygenase (IDO) which may confer immunoprotection
Basal cell carcinomas may use IDO to protect themselves from the immune system.
research A Hairy Cituation – PADIs in Regeneration and Alopecia
Enzymes called PADIs play a key role in hair growth and loss.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research The International Journal of Cell Differentiation and Proliferation
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Synchronously developing collet hairs in Arabidopsis thaliana provide an easily accessible system for studying nuclear movement and endoreduplication
Arabidopsis collet hairs are good for studying nuclear movement and DNA content increase during growth.
research Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System
ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research The effects of sonic, desert and Indian hedgehog signalling in skin
Shh and Dhh affect skin development and can cause tumors, while Ihh does not.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin
Integrin-linked kinase is crucial for melanoblasts to properly colonize the skin.
research NEDD4 Transcript Variant 3 and IGF-1 as Molecular Markers in the Development and Prognosis of Keloids
High levels of NEDD4-TV3 and IGF-1 may predict and contribute to keloid formation.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Engineering of Recombinant Fortilin for Structure Activity Studies
The research developed new fortilin protein constructs for potential heart disease treatments.
research Flightless I exacerbation of inflammatory responses contributes to increased colonic damage in a mouse model of dextran sulphate sodium-induced ulcerative colitis
High levels of the protein Flightless I worsen ulcerative colitis symptoms in mice.
research Discovery of Orally Available Prodrugs of Itaconate and Derivatives
New itaconate prodrugs improve its absorption and effectiveness for treating inflammation.
research Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
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 ‘Hard’ and ‘soft’ principles defining the structure, function and regulation of keratin intermediate filaments
Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.