research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
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780-810 / 1000+ results research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
research Skin Stem Cells: At the Frontier Between the Laboratory and Clinical Practice. Part 1: Epidermal Stem Cells
Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Co-occurrence of monilethrix and Type 1 diabetes mellitus
The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
research Regeneration, Wound Healing and Cancer
The document concludes that while some organisms can regenerate body parts, mammals generally cannot, and cancer progression is complex, involving mutations rather than a strict stem cell hierarchy.
research Woolly Antics between the Sheaths
Lipase H is important for hair follicle function and shaping hair fibers.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Cyproterone Acetate: A Genotoxic Carcinogen?
Cyproterone acetate may cause liver cancer at high doses, but is considered safe at recommended doses for approved uses.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates
Unani medicine and modern dermatology both offer treatments for ichthyosis, a condition causing dry, scaly skin.
research Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
research Overlapping features of atopic dermatitis and alopecia areata: from pathogenesis to treatment
Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.
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 Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Brief study of hypertrichosis
Hypertrichosis causes excessive hair growth and can be managed with treatments like laser, electrolysis, or new topical solutions.
research IMPACT OF BIOMARKER IN PREDICATIVE TO RESPONSE ADJUVANT CHEMOTHERAPY AND OVERALL SURVIVAL IN FEMALES INFECTED WITH BREAST CANCER: A REVIEW ARTICLES
Certain genes can predict how well breast cancer patients respond to chemotherapy.
research Comprehensive Administrative and Engineering Strategies for Radiation Protection and Occupational Health Safety
Implementing safety strategies is crucial to prevent radiation-related health issues.
research Effect of gamma-ray exposure on the genome-editing efficiency of improved genome-editing via oviductal nucleic acids delivery (<i>i</i>-GONAD)
Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
research Nevus comedonicus with lesional growth of terminal hair: An unusual case
Nevus comedonicus can sometimes grow terminal hair, challenging previous beliefs.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Myeloproliferative disorder associated with alopecia universalis
Ruxolitinib helped regrow hair in a woman with a blood disorder and complete hair loss.