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.
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840-870 / 1000+ results research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Future Directions: Gene Polymorphism Diagnostics Relevant to Hair
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Polydeoxyribonucleotide in Skincare and Cosmetics: Mechanisms, Therapeutic Applications, and Advancements Beyond Wound Healing and Anti-aging
PDRN from trout sperm helps skin and hair regeneration but is costly and complex to produce.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Trichofolliculoma: Is It A Recurrence? A Case and Review of the Literature
Trichofolliculoma, a rare benign hair follicle tumor, can potentially recur.
research The parathyroid hormone-related protein as a regulator of normal tissue functions
PTHrP regulates various normal body functions, including bone development, skin, and muscle function.
research Exploring Clinical and Imaging Differences in COVID-19: an Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Structural changes in trichocyte keratin intermediate filaments during keratinization
Keratin structure changes during keratinization, but the exact model remains uncertain.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Corkscrew Hairs in Trichoscopy of Trichotillomania
Corkscrew hairs can help diagnose trichotillomania.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C
Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research 169 TEDAR, a skin-specific long non-coding RNA, orchestrates the late epidermal differentiation program in the human epidermis
TEDAR is crucial for skin cell differentiation and barrier formation.
research CSF 5-HIAA as a predictor of treatment response in trichotillomania.
Higher CSF 5-HIAA levels may predict better response to serotonin re-uptake inhibitors in trichotillomania.
research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening
Mutations in specific llama genes may affect fiber quality for textiles.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Trichilemmal Carcinoma of the Thigh
Trichilemmal carcinoma is rare, usually benign after removal, but needs close follow-up due to recurrence risks.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Commentary on BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas
research Interparietal nodule in a 49‐year‐old woman
A rare scalp tumor was removed from a 49-year-old woman, with a good outlook if benign but needing careful monitoring if malignant.
research METTL1-mediated m7G tRNA modification drives papillary thyroid cancer progression and metastasis by regulating the codon-specific translation of TNF-α
Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.