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.
Search
for
Sort by
Research
180-210 / 1000+ results 
research The Diversity of Sex Development: What Conditions Affecting Sex Development Teach Us About Sexual Diversity
Conditions affecting sex development show that sexual diversity is a natural part of human variation.
research Cidea Control of Lipid Storage and Secretion in Mouse and Human Sebaceous Glands
Cidea is essential for proper lipid storage and secretion in sebaceous glands, affecting skin and hair health.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Telogen Effluvium: A Sequela of COVID-19
COVID-19 may cause a temporary hair loss condition called telogen effluvium in some patients after recovery.
research Biotransformation of Finasteride (MK-0906) by Selenastrum Capricornutum (Green Algae)
Green algae can break down finasteride, reducing environmental harm.
research Estrogens and the Skin
Estrogen loss during menopause worsens skin health, but hormone replacement therapy may improve it, though more research is needed.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Skin Aging and Menopause: Implications for Treatment
Menopause can lead to skin and hair problems due to hormonal changes, but hormone replacement therapy might help slow these effects.
research An Intrinsic Oscillation of Gene Networks Inside Hair Follicle Stem Cells: An Additional Layer That Can Modulate Hair Stem Cell Activities
Gene network oscillations inside hair stem cells are key for hair growth regulation and could help treat hair loss.
research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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 Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Individual Variation in Balance Between Platelet-Secreted Growth Factors Causing Contradictory Effects on Hair Follicle Could Potentially Impact Response to PRP Therapy in Patients With Scalp Hair Loss
People respond differently to hair loss treatment with PRP because of individual differences in growth factors from platelets.
research IL-9 Mediated Human Primary Keratinocytes Invasion Is Dependent on MLC Controlled Contractility and Independent of MMP Activity
IL-9 increases skin cell movement but decreases their ability to invade, and this effect is controlled by cell contractility, not by MMPs.
research Integration of Magnetic Tweezers and Traction Force Microscopy for Exploring the Mechanobiology of Keratinocyte Cell-Cell and Cell-Matrix Anchoring Junctions
The conclusion is that a new method combining magnetic tweezers and traction force microscopy may help understand skin cell interactions and diseases.
research Imaging Nanoscale Changes in Desmosome Protein Organization
Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
research Elevated Expression of Osteopontin Splice Variants in Nonmelanoma Skin Cancer Compared to Normal Skin and Adult Keratinocytes
Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
research Congenital and Hereditary Skin Diseases in Bovines
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Recommendations for Treatment of Nonclassic Congenital Adrenal Hyperplasia: An Update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Management of Endocrine Disease: Hyperandrogenic States in Women - Pitfalls in Laboratory Diagnosis
Diagnosing hyperandrogenism in women is complex and requires accurate testing methods and consideration of SHBG levels.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Toxic Epidermal Necrolysis Caused by Skin Hypersensitivity to Monosulfiram
A woman's severe skin reaction was caused by an allergy to a skin treatment.
research Discriminating in Favor of or Against Men with Increased Risk of Finasteride-Related Side Effects?
Finasteride treats baldness but may cause lasting sexual side effects.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research HIV Infection Mimicking Autoimmune Disorder
A girl with symptoms like an autoimmune disorder actually had HIV and a fungal infection, which was hard to diagnose and treat, leading to her death.