research Alopecia por diluição da cor em uma cadela Staffordshire Bull Terrier azul: Relato de caso
A blue Staffordshire Bull Terrier had hair loss due to color dilution alopecia, confirmed by tests, but no treatment was pursued.
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research Genome-wide detection and sequence conservation analysis of long non-coding RNA during hair follicle cycle of yak
Researchers found that certain RNA sequences play a role in yak hair growth and these sequences are somewhat similar to those in cashmere goats.
research Oral Presentations
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele
Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research Polycystic Ovary Syndrome: Conditions, Genetics and Current Cure
PCOS has no cure, but treatments can manage symptoms and improve health.
research Hirsutism
Excessive hair growth in women, often from high androgen levels, is usually caused by PCOS, and can be treated with hair removal, medication, and possibly weight loss.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Insulin Resistance and Polycystic Ovary Syndrome
Insulin resistance is linked to PCOS and can lead to other health issues, but treatments like metformin can help manage symptoms.
research Molecular genetics of androgen insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
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 A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research An industry update: what’s new in the field of therapeutic delivery this month?
New drugs for Alzheimer's and rheumatoid arthritis advanced, a Zika vaccine is in development, and there were business deals in anesthesia and oncology.
research A counter gradient of Activin A and follistatin instructs the timing of hair cell differentiation in the murine cochlea
Activin A and follistatin control when hair cells develop in mouse ears.
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.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research The protease corin regulates electrolyte homeostasis in eccrine sweat glands
Corin helps control salt and sweat release in sweat glands.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Inflammatory Cytokine TNFα Promotes the Long-Term Expansion of Primary Hepatocytes in 3D Culture
TNFα helps grow and maintain liver cells in 3D culture for a long time.
research Corticotropin releasing hormone and the skin
CRH in the skin acts like the body's stress response system, affecting cell behavior and immune activity.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
research Genetics of Wool and Cashmere Fibre: Progress, Challenges, and Future Research
More research is needed to improve wool and cashmere quality through genetics.