research Grey, Curly, and Short-Haired Swiss Holstein Cattle Show Genetic Traces of the Simmental Breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
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research Control of Hair Follicle Cell Fate by Underlying Mesenchyme Through a CSL–Wnt5a–FoxN1 Regulatory Axis
Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Evaluation of the Predictive Capacity of DNA Variants Associated with Straight Hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Pathogenesis and Causes of Hirsutism
Hirsutism is mainly caused by high androgen levels or sensitivity, with PCOS being the most common cause.
research Prevalence of CYP21 Mutations and IRS1 Variant Among Women With Polycystic Ovary Syndrome and Adrenal Androgen Excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Retinoic Acid Exerts Sexually Dimorphic Effects on Muscle Energy Metabolism and Function
Retinoic acid affects male and female muscle energy use and function differently.
research Partial Biotinidase Deficiency: Clinical and Biochemical Features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research Hyperandrogenism in Adolescent Girls: Diagnosis and Management
Diagnosing PCOS in teenage girls is tricky and requires careful evaluation and management.
research TRPA1 Modulates Mechanotransduction in Cutaneous Sensory Neurons
TRPA1 is crucial for mechanical sensitivity in skin sensory neurons.
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 Genetically Modified Laboratory Mice with Sebaceous Glands Abnormalities
Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
research In Search of New Therapeutics: Molecular Aspects of the PCOS Pathophysiology - Genetics, Hormones, Metabolism and Beyond
New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.
research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
research Using WGCNA to Identify Hub Genes of Skin Hair Follicle Development in Fetal Stage of Inner Mongolia Cashmere Goat
Researchers found WNT10A to be a key gene in developing goat hair follicles.
research Screening for 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia Among Hyperandrogenic Women: A Prospective Study
Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
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 Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research Improved Health-Span and Lifespan in mtDNA Mutator Mice Treated with the Mitochondrially Targeted Antioxidant SkQ1
SkQ1 antioxidant improved health and lifespan in mice.
research A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Homologous Recombination Induced by Doxazosin Mesylate and Saw Palmetto in the Drosophila Wing-Spot Test
Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Prolactin Signaling Influences the Timing Mechanism of the Hair Follicle: Analysis of Hair Growth Cycles in Prolactin Receptor Knockout Mice
Prolactin affects when mice shed and grow hair.
research Prolactin Signaling Influences the Timing Mechanism of the Hair Follicle: Analysis of Hair Growth Cycles in Prolactin Receptor Knockout Mice
Prolactin affects when mice shed and grow hair.
research The Importance of Basonuclin 2 in Adult Mice and Its Relation to Basonuclin 1
Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.