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.
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research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research When Acne, Hirsutism, and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
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 Testosterone Levels in Relation to Oral Contraceptive Use and the Androgen Receptor CAG and GGC Length Polymorphisms in Healthy Young Women
Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Gene-Wide Association Study Between the Aromatase Gene (CYP19A1) and Female Pattern Hair Loss
Aromatase gene variation may increase female hair loss risk.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Gene Expression of Mouse S100A3, a Cysteine-Rich Calcium-Binding Protein, in Developing Hair Follicle
S100A3 protein is crucial for hair shaft formation in mice.
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 Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Peripheral Blood Gene Expression in Alopecia Areata Reveals Molecular Pathways Distinguishing Heritability, Disease, and Severity
Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Association of AR rs6152G/A Gene Polymorphism With Susceptibility to Polycystic Ovary Syndrome in Chinese Women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
research The Estrogen Receptor 2 (ESR2) Gene in Female-Pattern Hair Loss: Replication of Association with rs10137185 in German Patients
ESR2 gene linked to female-pattern hair loss.
research A Novel Regio-Specific Cyclosporin Hydroxylase Gene Revealed Through the Genome Mining of Pseudonocardia Autotrophica
Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Seasonal Gene Expression Profile Responsible for Hair Follicle Development in Angora Goats
Seasonal changes affect gene activity linked to hair growth in Angora goats, influencing mohair quality.
research Seasonal Gene Expression Profile Responsible for Hair Follicle Development in Angora Goats
Seasonal changes affect gene activity linked to hair growth in Angora goats.
research Seasonal Gene Expression Profile Responsible for Hair Follicle Development in Angora Goats
Seasonal changes affect hair growth genes in Angora goats, possibly influencing mohair quality.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Susceptibility Variants on Chromosome 7p21.1 Suggest HDAC9 as a New Candidate Gene for Male-Pattern Baldness
A gene called HDAC9 might be a new factor in male-pattern baldness.
research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Human Gene Correlation Analysis: A Tool for the Identification of Transcriptionally Co-Expressed Genes
The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
research Evaluation of Androgen Receptor Gene as a Candidate Gene in Female Androgenetic Alopecia
AR gene not major factor in female hair loss; different from male hair loss.
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.