research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
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research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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 Novel Advances of Histone Modification in Inflammatory Skin Diseases and Related Treatment Methods
Histone modification is key in treating chronic inflammatory skin diseases.
research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research A Window into Mammalian Basement Membrane Development: Insights from the mTurq2-Col4a1 Mouse Model
The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Biomedical Engineering Approaches for the Delivery of JAGGED1 as a Potential Tissue Regenerative Therapy
JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Data from Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened
The treatment was ineffective in humans.
research Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in the Mouse
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
research Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in Mice
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
research Lrig1-Expressing Epidermal Progenitors Require SCD1 to Maintain the Dermal Papilla Niche
Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Host Genetic Susceptibility and Impacts of Dietary Factors on COVID-19
Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
research The Stem Cell Quiescence and Niche Signaling Is Disturbed in the Hair Follicle of the Hairpoor Mouse, an MUHH Model Mouse
Hair follicle stem cells in hairpoor mice are disrupted, causing hair loss.
research Transcriptome Dynamics Reveal Stage-Specific and Melatonin-Triggered Gene Expression Patterns During the Cashmere Growth Cycle in Capra Hircus
Melatonin affects certain genes and pathways involved in cashmere goat hair growth.
research Transcriptome Dynamics Reveal Stage-Specific and Melatonin-Triggered Gene Expression Patterns During the Cashmere Growth Cycle in Capra Hircus
Melatonin can increase cashmere yield by altering gene expression and restarting the growth cycle early.
research Can Extra-Adrenal Cortisol Secretion Occur in an Adrenalectomized Patient?
A patient produced cortisol after adrenalectomy, possibly due to residual tissue or other body parts making steroids.
research Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Distinct Tooth Regeneration Systems Deploy a Conserved Battery of Genes
Different fish use the same genes to regrow teeth.
research Hair Follicle Stem Cell Progeny Heal Blisters While Pausing Skin Development
Skin healing from blisters can delay hair growth as stem cells focus on repairing skin over developing hair.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Structural and Functional Studies of L-PGDS and SMPDL3A Enzymes in Lipid Signaling Family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research WNT10B (Wingless-Type MMTV Integration Site Family): Role in Biological Processes and Diseases
WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
