research Perspectives of Kennedy's Disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
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research Genome-Wide Meta-Analysis Implicates Mediators of Hair Follicle Development and Morphogenesis in Risk for Severe Acne
Genetic variations affecting skin structure play a key role in severe acne.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
Loss of keratin K2 causes skin problems and inflammation.
research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
Gene linked to common hair loss found, may lead to new treatments.
research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research The Hairless Gene in Androgenetic Alopecia: Results of a Systematic Mutation Screening and a Family-Based Association Approach
Hairless gene not strongly linked to baldness.
research Polymorphisms in Androgen and Estrogen Receptor Genes: Effects on Male Aging
Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
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 Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Serum Markers of Thrombophilia in Pregnant Women with Systemic Lupus Erythematosus
Pregnant women with Systemic Lupus Erythematosus have a higher risk of blood clotting problems.
research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research Evaluation of the Relationship Between Androgenetic Alopecia and Blood Groups and Rhesus Factor
No link between hair loss and blood groups or Rhesus factor.
research Androgenetic Alopecia in Women
Hair loss in women, often not related to male hormones, increases with age and can cause significant emotional distress.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
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 Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Intracrine Androgen Biosynthesis, Metabolism, and Action Revisited
The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.