research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
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330-360 / 1000+ resultsresearch Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Epigenetic Effects of Gender-Affirming Hormone Treatment: A Pilot Study of the ESR2 Promoter’s Methylation in AFAB People
Testosterone treatment may change estrogen receptor methylation in AFAB individuals.
research Effect of the Polymorphisms of Keratin Associated Protein 8.2 Gene on Fibre Traits in Inner Mongolia Cashmere Goats
KAP8.2 gene variations affect cashmere quality in goats.
research DataSheet5_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.csv
The study investigated the role of Bardet-Biedl syndrome 7 (BBS7) in maintaining periodontal ligament (PDL) homeostasis under occlusal hypofunction conditions. RNA sequencing of 34 human teeth revealed that BBS7 expression was downregulated in hypofunctional PDL, leading to atrophic changes such as reduced PDL cell numbers, altered collagen fiber alignment, and decreased blood vessel diameter. The study found that Sonic hedgehog (Shh) signaling activity was closely linked to BBS7 expression, and BBS7 knockdown suppressed cell migration and angiogenesis in vitro. These findings suggested that BBS7 is crucial for maintaining Shh signaling activity and PDL homeostasis.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling
EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
research Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle
research Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter
KRTAP28-1 gene can help breed sheep with finer wool.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata
A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Gene Expression in Rat Dermal Papilla Cells: Analysis of 2529 ESTs
Rat dermal papilla cells have unique genes crucial for hair growth.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Involvement of Wnt, Eda and Shh at defined stages of sweat gland development
Wnt, Eda, and Shh pathways are crucial for different stages of sweat gland development in mice.
research Clinical Snippets
New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
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 A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3
A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.