research SAÚDE MENTAL DA EQUIPE DE ENFERMAGEM NO CONTEXTO DA PANDEMIA COVID19
Nursing staff's mental health was affected during the COVID-19 pandemic.
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research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Pathophysiological mechanisms of hair follicle regeneration and potential therapeutic strategies
Understanding hair growth pathways can lead to better hair loss treatments.
research Gene network analysis reveals candidate genes related with the hair follicle development in sheep
Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
research A review of genotrichoses and hair pathology associated with inherited skin diseases
Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Adverse effects of 5α-reductase inhibitors: What do we know, don’t know, and need to know?
5α-reductase inhibitors may cause persistent sexual dysfunction and depression, needing more research on long-term effects.
research The Flavonol Quercitrin Hinders GSK3 Activity and Potentiates the Wnt/β-Catenin Signaling Pathway
Quercitrin may help treat Alzheimer's by boosting brain cell signaling without causing tumors.
research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Hidradenitis Suppurativa/Acne Inversa/Dissecting Terminal Hair Folliculitis
Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Tooth Regeneration: Insights from Tooth Development and Spatial-Temporal Control of Bioactive Drug Release
Tooth regeneration could become possible by controlling how and when bioactive factors are released.
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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 Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Regulation of VDR by ΔNp63α is associated with inhibition of cell invasion
ΔNp63α helps control a protein that stops cancer cells from spreading.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Trichoscopy in Hair Shaft Disorders
Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.