research Disruption of the Temporally Regulated Cloaca Endodermal β-Catenin Signaling Causes Anorectal Malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
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research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research KATP Channels in Zebrafish Cardiovascular System: A Model to Study Cantú Syndrome
Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Cell Death as an Architect of Adult Skin Stem Cell Niches
Cell death shapes skin stem cell environments, affecting inflammation, repair, and cancer.
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 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Special Collection on Inward Rectifying Potassium Channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
research Androgen Receptor in Human Health: A Potential Therapeutic Target
The Androgen Receptor could be a target for treating diseases like cancer, but more research is needed to confirm the effectiveness of potential treatments.
research MicroRNA Control of Signal Transduction
MicroRNAs are crucial in controlling cell signaling, affecting cancer and tissue regeneration.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Are the Cutaneous Manifestations During or Due to SARS-CoV-2 Infection/COVID-19 Frequent or Not? Revision of Possible Pathophysiologic Mechanisms
Skin problems in COVID-19 patients are rare and may be due to the body's complex immune response or blood clotting issues.
research The Paradox of p53: What, How, and Why?
The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
research Molecular Pathology of Skin Adnexal Tumors
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Regulation of Adipocyte Dedifferentiation at the Skin Wound Edge
Adipocytes can change into fibroblast-like cells to help with wound healing.
research The Suppression of Very Long Chain Fatty Acids Is Associated with Skin Carcinogenesis
Suppressing very long chain fatty acids is linked to skin cancer.
research Loss of Epidermal Evi/Wls Results in a Phenotype Resembling Psoriasiform Dermatitis
Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
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.
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 STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Proliferation, But Not Apoptosis, Is Associated With Distinct Beta-Catenin Expression Patterns in Non-Small-Cell Lung Carcinomas
Distinct β-catenin patterns are linked to cell growth, not cell death, in lung cancer.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.