research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
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research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Pinpoint white dots in the scalp: Dermoscopic and histopathologic correlation
Small white dots on the scalp seen with a dermoscope correspond to sweat ducts and vary with different hair disorders.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research 229 Single cell transcriptomics identifies a potential role for Arg1+ macrophages in alopecia areata pathogenesis
Arg1+ macrophages may play a role in causing alopecia areata.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research SHP099-containing multi-targeting hydrogel promotes rapid skin reconstruction through modulating a variety of cells
Gel-SHP helps skin heal faster.
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 КЛІНІЧНІ ФЕНОТИПИ ВИСОКОГО РИЗИКУ НАЯВНОСТІ ПЕРВИННИХ МІТОХОНДРІАЛЬНИХ ЦИТОПАТІЙ (частина 2)
Primary mitochondrial cytopathies often cause skin, endocrine, vision, and blood issues, needing careful diagnosis.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Foxn1 in Skin Development, Homeostasis and Wound Healing
Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
research CuATSM Enhances Wound Repair Without Scarring via Hippo/YAP Signalling Pathway to Reduce Ferroptosis and Macrophage Polarisation
CuATSM speeds up wound healing and reduces scarring.
research Differential cold stress intensities drive unique morphological and transcriptomic changes in Zea mays root hairs
Maize root hairs adapt differently to mild and severe cold, with mild stress allowing some growth and severe stress stopping growth to focus on defense.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research From the Microscopic Sweat Gland to Large Datasets: The Power of Quantitative Traits in Dermatology
Using quantitative traits in genetics can improve understanding and management of skin health and conditions.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research The TIP GROWTH DEFECTIVE1 S-Acyl Transferase Regulates Plant Cell Growth in Arabidopsis
The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
research Epidermal Stem Cells Are Defined by Global Histone Modifications that Are Altered by Myc-Induced Differentiation
Myc changes chromatin in stem cells, causing them to leave their niche.
research Landmark native breed of the Orenburg goats: progress in its breeding and genetics and future prospects
The Orenburg goat breed has unique genetics that require more detailed research and careful breeding.
research Abstract 5020: Characterization of epidermal stem cells in SKH1 hairless mice, a widely used mouse model to investigate ultraviolet radiation carcinogenesis.
SKH1 hairless mice have identifiable epidermal stem cells with specific markers.
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 Mitochondrial dysfunction as a cause of ageing
Mitochondrial dysfunction contributes to ageing by causing DNA mutations and reduced cell function.