research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
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750-780 / 1000+ resultsresearch Frontal Fibrosing Alopecia: Successfully Treated with Methotrexate or Just the Natural Disease Progression?
Methotrexate may help stabilize frontal fibrosing alopecia.
research 5α-Metabolism in Finasteride-Treated Subjects and Male Pseudohermaphrodites with Inherited 5α-Reductase Deficiency
Finasteride lowers DHT levels and raises testosterone in a dose-dependent way.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
research Evaluating the Causal Relationship Between Human Blood Metabolites and the Susceptibility to Alopecia Areata
Blood metabolites significantly influence alopecia areata risk.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Decision letter: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Investigation of Vaspin and Visfatin -4689G/T Gene Polymorphisms in Alopecia Areata Patients
The visfatin GT genotype may increase the risk of Alopecia Areata.
research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer
Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Follicular Mycosis Fungoides: Variability of a Rare Entity
FMF and mycosis fungoides are variants of the same disease, and bexarotene can be an effective treatment.
research Side effects of methotrexate therapy in patients with rheumatoid arthritis
Methotrexate is effective for rheumatoid arthritis but often causes side effects like nausea and liver issues.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
research New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research Cutaneous malignant melanoma incidences analyzed worldwide by skin type over advancing age of males and females: Evidence estrogen and androgenic hair are risk factors
Estrogen and androgenic hair increase melanoma risk, especially in European-ancestry individuals.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research Association of Androgen Receptor CAG Repeat Length with Polycystic Ovary Syndrome in an Iranian Female Population
CAG repeat length in the AR gene is not linked to PCOS risk in Iranian women.
research Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.