research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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research Cicatricial Alopecia Research Foundation Meeting, May 2016: Progress Towards the Diagnosis, Treatment, and Cure of Primary Cicatricial Alopecias
The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Maternal Androgen Excess Induces Cardiac Hypertrophy and Left Ventricular Dysfunction in Female Mice Offspring
High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.
research Is Polycystic Ovary Syndrome a Sexual Conflict? A Review
The conclusion suggests that PCOS may persist due to genetic traits that, while harmful for female fertility, could have provided survival and reproductive benefits to males.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
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 Polycystic Ovary Syndrome in Adolescents
The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.
research Genetic Basis of Polycystic Ovary Syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research The Inconsistent Regulation of HOXC13 on Different Keratins and the Regulation Mechanism on HOXC13 in Cashmere Goat (Capra Hircus)
The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
research PCOS: Update and Diagnostic Approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research Association of Premature Androgenetic Alopecia and Metabolic Syndrome in a Young Indian Population
Early hair loss links to metabolic issues in young Indian men.
research The Genetics of Alopecia Areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
research Hormonal Regulation in Male Androgenetic Alopecia: Sex Hormones and Beyond - Evidence from Recent Genetic Studies
Hormones and genes affect hair growth and male baldness.
research The Influence of Obesity on Androstenedione to Testosterone Ratio in Women with Polycystic Ovary Syndrome and Hyperandrogenemia
Obesity changes androgen levels in women with PCOS, leading to higher testosterone relative to androstenedione.
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 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 Anti-Müllerian Hormone Gene Polymorphism Is Associated With Androgen Levels in Chinese Polycystic Ovary Syndrome Patients With Insulin Resistance
Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Association of mtDNA M/N Haplogroups with Systemic Lupus Erythematosus: A Case-Control Study of Han Chinese Women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Genome-Wide Association Study Identifies Variants Associated With Hair Length in Brangus Cattle
Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.
research Heme Oxygenase and the Skin in Health and Disease
HO-1 helps skin health and healing but can worsen melanoma; it's a potential treatment target for skin diseases.
research Molecular Evolution of HR, a Gene That Regulates the Postnatal Cycle of the Hair Follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Physiology and Medical Treatments for Alopecia
Minoxidil, finasteride, and low-level laser light therapy are effective FDA-approved treatments for hair loss.
research Are 2D:4D Finger-Length Ratios an Indicator of Androgenetic Alopecia in Males?
Right hand finger ratio may predict male hair loss.
research Expression Analysis of the Type I Keratin Protein Keratin 33A in Goat Coat Hair
Keratin 33A is a key protein in goat winter coats, especially in high-producing breeds.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Interconnected Polymers Technology (IPSTiC): An Effective Approach for the Modulation of 5α-Reductase Activity in Hair Loss Conditions
A new anti-baldness patch effectively treats hair loss by blocking enzymes linked to the condition.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.