research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
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research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Characterization of X-Linked SNP Genotypic Variation in Globally Distributed Human Populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research More About X-Linked Testicular Feminization of the Mouse as a Noninducible (is) Mutation of a Regulatory Locus: 5α-Androstan-3α-17β-Diol as the True Inducer of Kidney Alcohol Dehydrogenase and β-Glucuronidase
A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
research Lupus Erythematosus-Like Lesions in a Carrier of X-Linked Chronic Granulomatous Disease: A Case Report and Personal Considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Keratosis Follicularis Spinulosa Decalvans: What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Polymorphism of CAG and GGN Repeats of Androgen Receptor Gene in Women with Polycystic Ovary Syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Dissection of Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research A Tale of Two Haplotypes: The EDA2R/AR Intergenic Region Is the Most Divergent Genomic Segment Between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
research The Genetics of Autism and Steroid-Related Traits in Prenatal and Postnatal Life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
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.
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 Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
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 XEDAR Activates the Non-Canonical NF-κB Pathway
XEDAR triggers a specific signaling pathway in cells.
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 Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
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.