research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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90-120 / 872 resultsresearch Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Genome-wide detection of RNA editing events during the hair follicles cycle of Tianzhu white yak
RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.
research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Low-Dose Dimethyl Sulfoxide (DMSO) Suppresses Androgen Receptor (AR) and Its Splice Variant AR-V7 in Castration-Resistant Prostate Cancer (CRPC) Cells
Low-dose DMSO may help treat castration-resistant prostate cancer by reducing key cancer cell receptors.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research The nude gene and the skin
The nude gene is important for skin and hair development.
research Identification of Differentially Expressed Genes During a Wool Follicle Growth Cycle Induced by Prolactin
Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
research Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease
Mutations in certain receptors can cause diseases and offer new treatment options.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Comparative Skin Transcriptomics Reveals Key Regulators of Cashmere Fiber Production in Inner Mongolian Goats
Key genes and pathways influence cashmere production in goats.