research Protoporphyrin IX: The Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
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150-180 / 1000+ results research A Mutation of the Androgen Receptor Associated with Partial Androgen Resistance, Familial Gynecomastia, and Fertility
A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.
research Keratosis Follicularis Spinulosa Decalvans: A Family Study of Seven Male Cases and Six Female Carriers
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Roles of Steroid Sulfatase in Brain and Other Tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Keratosis Follicularis Spinulosa Decalvans in a Female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Genetic Correlation Analysis Does Not Associate Male Pattern Baldness With COVID-19
There's no significant genetic link between male pattern baldness and COVID-19.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Familial Congenital Generalized Hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Ichthyosiform Nevus in a 22-Year-Old Woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
research 8th Postgraduate Seminar in Pediatric Dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation
KFSD causes scarring hair loss and skin roughness, mainly in males.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Ichthyosis Follicularis with Alopecia and Photophobia (IFAP): Late Diagnosis in 18-Year-Old Man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
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.
research Spinal and Bulbar Muscular Atrophy: Pathogenesis and Clinical Management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Clinicopathologic and Trichoscopic Features of Keratosis Follicularis Spinulosa Decalvans: A Case Series Study
The study concluded that key signs of Keratosis follicularis spinulosa decalvans are changes in terminal hair and vellus hair follicles, which likely start the inflammation and damage to hair follicles.
research Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss Patients
Longer CAG repeats in gene linked to more severe hair loss in females.
research LGR5 Is a Marker of Poor Prognosis in Glioblastoma and Is Required for Survival of Brain Cancer Stem-Like Cells
High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
research Skin Manifestations in Primary Immunodeficient Children
Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
research It's X-Related: Biological Bases of Increased COVID-19 Morbidity and Mortality in Men
Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome: A Pilot Study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.