research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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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 Becker’s Nevus in a Male: A Case Report
A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research LO-010 Relationship Between The EULAR/ACR Classification Criteria And Organ Damage In Systemic Lupus Erythematosus
Higher EULAR/ACR scores in SLE patients predict more organ damage.
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 Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Genetic Single Nucleotide Polymorphisms of IL-16 and Its Concentration in Patients Infected with Alopecia Areata in Diyala Province, Iraq
Certain genetic variations in IL-16 may increase the risk of alopecia areata.
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 MOF-Mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions by Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Selection Signatures in Goats Reveal a Novel Deletion Mutant Underlying Cashmere Yield and Diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Clinical Case of a Patient with Progressive Supranuclear Palsy – From Symptom to Diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
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 Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Follicle-Innervating Aδ-Low Threshold Mechanoreceptors Organize Through a Population-Dependent Mechanism
Mouse touch-sensitive nerve cells adjust their connections based on competition with other similar cells.
research Dental Management in a 7-Year-Old Child with Ichthyosis Vulgaris: A Rare Case Report
Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
research A Synoptic Overview on Autoimmune Disorders and Its Management
Autoimmune diseases cause the immune system to attack the body, and management varies as some are curable and others are not.
research A Synoptic Overview on Autoimmune Disorders and Its Management
Autoimmune diseases cause the immune system to attack the body, and management varies as some are curable and others are not.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research Type 2 Innate Immunity Regulates Hair Follicle Homeostasis to Control Demodex Pathosymbionts
A specific immune response helps control mite populations on the skin, maintaining healthy hair follicles.
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 The Alopecia Areata Phenotype Is Induced by the Water Avoidance Stress Test in CCHCR1-Deficient Mice
Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Dermal EZH2 Simultaneously Orchestrates Wnt/β-Catenin Signaling Dependent Dermal Differentiation and Retinoic Acid Signaling Dependent Epidermal Proliferation During Murine Skin Development
Ezh2 controls skin development by balancing signals for dermal and epidermal growth.