research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
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research Alopecia X in dogs: report of seven cases
The conclusion is that different treatments improved hair growth in dogs with Alopecia X, but results varied and not all dogs had complete hair regrowth.
research To study hypoactive sexual desire disorder in a fragile X carrier female successfully treated with local testosterone application
Local testosterone treatment improved sexual desire in a female with fragile X syndrome.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Effect of X-Irradiation on Differentiating Hair Follicles
X-ray exposure affects developing hair follicles.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Phenotype-Specific Lifestyle Prediction for PCOS Using Machine Learning Multi-Class Classification and SHAP Explainability
Machine learning can accurately predict PCOS phenotypes using lifestyle and symptom data.
research POLYCYSTIC OVARY SYNDROME: DIVERSE CLINICAL PRESENTATIONS ACROSS ADOLESCENCE, REPRODUCTIVE AGE, AND MENOPAUSE
PCOS symptoms vary by age, affecting diagnosis and treatment.
research Histological and Trichographic Differences Between Coat Types in Non‐Alopecic Pomeranians and With Alopecia X
Coat-type differences in Pomeranians affect Alopecia X diagnosis and treatment.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research THE GENETICS OF CYP GENE VARIANTS IN ASSOCIATION WITH POLYCYSTIC OVARY SYNDROME: A NARRATIVE REVIEW
Genetic variants in CYP genes may worsen PCOS symptoms.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Description and characterization of a hair coat disorder in schipperkes
The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart
The gene causing hair loss and heart issues in rough coat mice is still unknown.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Improvement of Antioxidant Defences in Keratinocytes Grown in Physioxia: Comparison of 2D and 3D Models
Physioxia improves keratinocyte protection against oxidative stress and better mimics real skin conditions.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.
research Canine alopecia X-Like disorder
The dog likely has a canine alopecia X-like disorder.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.