research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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research Cumulative Index
The document provides a comprehensive index of medical and surgical topics, including hair removal, hair restoration, and various treatments for injuries and conditions.
research Madarosis, Milphosis, Eyelash Trichomegaly, and Dermatochalasis: Conditions Affecting the Periocular Area
The document concludes that changes in eyelashes and eyelid skin can indicate various local and systemic diseases.
research Specific Ectodermal Enhancers Control the Expression of Hoxc Genes in Developing Mammalian Integuments
The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
research Human Clinical Phenotype Associated With FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Voice Changes in Reproductive Disorders, Thyroid Disorders, and Diabetes: A Review
People with reproductive, thyroid disorders, and type 2 diabetes can experience voice changes, but more research is needed to understand this better.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research What Does Acne Genetics Teach Us About Disease Pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research Hair Loss in Children: A Detailed Overview of Pediatric Alopecia
The most common cause of hair loss in children is tinea capitis, followed by alopecia areata and telogen effluvium.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Frontal Fibrosing Alopecia Under Dynamic Optical Coherence Tomography
D-OCT shows increased blood vessel growth in response to tissue damage in Frontal Fibrosing Alopecia and is useful for diagnosis and monitoring.
research Catalytic-Dependent and -Independent Activities of Polycomb Repressive Complex 1 Differentially Regulate Skin Stem Cell Specification
PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
research Conditional Ablation of JAK-STAT5 Signaling Induces Anagen Hair Growth
Blocking JAK-STAT5 signaling in mice leads to hair growth.
research Defining the Molecular Signature of the Hair Follicle Dermal Sheath and Its Functional Requirement for Hair Cycle Progression During Catagen
The hair follicle dermal sheath is essential for hair shedding and needs to communicate with the outer root sheath for normal hair growth cycles.
research Molecular Basis of Hair Follicle Donor Dominance in Androgenetic Alopecia and Sexual Dimorphism of the Skin
Hair loss patterns differ between males and females due to 5 master regulators and JAK-STAT signaling affects hair growth.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Acquired Hair Fragility in Pili Anulati: Causal Relationship with Androgenetic Alopecia
Pili anulati may cause hair loss, proper diagnosis and treatment needed.
research Phylloid Terminal Hair Nevus: A Unique Clinical Entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Hair Loss Disorders in Domestic Animals
The book is recommended for its new scientific information and balanced treatment options for hair loss in domestic animals.
research A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
research Risk-Benefit Ratio in the Treatment of Psoriasis with Systemic Retinoids
Systemic retinoids are effective for psoriasis but have side effects; benefits may outweigh risks, especially when reducing cancer risks from other treatments.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Surgical Atlas: Primary Hypospadias Repair with Buccal Mucosa
Using buccal mucosa for hypospadias repair in children is effective and reduces complications.
research Male Fertility and Skin Diseases
Some skin diseases and their treatments can negatively affect male fertility.