research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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120-150 / 1000+ resultsresearch Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research The Genetic Architecture of Alopecia Areata
Genetic discoveries are leading to new treatments for alopecia areata.
research Hedgehog Pathway Inhibitors Against Tumor Microenvironment
Hedgehog pathway inhibitors can treat certain aggressive cancers but face limitations like resistance and side effects.
research Notch Signaling Is Significantly Suppressed in Basal Cell Carcinomas and Activation Induces Basal Cell Carcinoma Cell Apoptosis
Activating Notch signaling can kill basal cell carcinoma cells.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Hidradenitis Suppurativa: A Folliculotropic Disease of Innate Immune Barrier Dysfunction?
Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Cellular Heterogeneity and Plasticity of Skin Epithelial Cells in Wound Healing and Tumorigenesis
Skin cells show flexibility in healing wounds and forming tumors, with potential for treating hair disorders and chronic ulcers.
research Advances in Molecular Pathogenesis of Hidradenitis Suppurativa: Dysregulated Keratins and ECM Signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Immunological and Metabolic Causes of Infertility in Polycystic Ovary Syndrome
PCOS causes infertility mainly due to hormonal imbalances, insulin resistance, and chronic inflammation.
research Immunohistochemical, Pharmacovigilance, and Omics Analyses Reveal the Involvement of ATP-Sensitive K+ Channel Subunits in Cancers: Role in Drug-Disease Interactions
ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
research Aging Skin and Non-Surgical Procedures: A Basic Science Overview
Non-surgical procedures can help reduce wrinkles and stimulate skin repair by understanding skin aging at the molecular level.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Moxibustion Improves Ovarian Function Based on the Regulation of the Androgen Balance
Moxibustion may help improve ovarian function by changing androgen levels.
research Successful Plasmapheresis and Immunoglobulin Treatment for Severe Lipid Storage Myopathy: Doing the Right Thing for the Wrong Reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Pathogenesis and Regenerative Therapy in Vitiligo and Alopecia Areata: Focus on Hair Follicle
Hair follicles are key to treating vitiligo and alopecia areata, but challenges exist.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Understanding Type 3 Innate Lymphoid Cells and Crosstalk with the Microbiota: A Skin Connection
Type 3 Innate Lymphoid Cells help maintain skin health and balance, and are involved in skin diseases and healing.
research Proteins in Scalp Hair of Preschool Children
Hair proteins in preschool children and their mothers could indicate developmental changes and health status.
research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Effects of Androgen Treatment on Growth in Patients with 5-Alpha-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.