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.
Search
for
Sort by
Research
360-390 / 1000+ results
research An ERK-Dependent Molecular Switch Antagonizes Fibrosis and Promotes Regeneration in Spiny Mice
High levels of ERK activity are key for tissue regeneration in spiny mice, and activating ERK can potentially redirect scar-forming healing towards regenerative healing in mammals.
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 Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Wound-Induced Hair Neogenesis Model
Careful selection of mice by genetics and age, and controlled housing conditions improve the reliability of hair regrowth in wound healing tests.
research sPLA2-IIA Overexpression in Mice Epidermis Depletes Hair Follicle Stem Cells and Induces Differentiation Mediated Through Enhanced JNK/c-Jun Activation
Overexpression of sPLA2-IIA in mouse skin reduces hair stem cells and increases cell differentiation through JNK/c-Jun pathway activation.
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 Resequencing Analyses Revealed Genetic Diversity and Selection Signatures During Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research Aldosterone- and Cortisol-Cosecreting Adrenal Adenoma, Ovarian Hyperthecosis, and Breast Cancer
The conclusion is that thorough investigation of hypertension and hormonal dysfunctions is important, and there may be a link between these conditions and cancer.
research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Two Mutations at KRT74 and EDAR Synergistically Drive the Fine-Wool Production in Chinese Sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research Hair Shaft Miniaturization Causes Stem Cell Depletion Through Mechanosensory Signals Mediated by a Piezo1-Calcium-TNF-α Axis
Hair thinning causes stem cell loss through a process involving Piezo1, calcium, and TNF-α.
research TRPV3 as a Therapeutic Target for Itch
Blocking TRPV3 may help treat itch in dry skin conditions.
research Enriching Proteolysis Targeting Chimeras with a Second Modality: When Two Are Better Than One
Adding a second method to PROTACs could improve cancer treatment.
research Comment on Scalp Neuropathy in Androgenetic Alopecia
Hair loss in men (androgenetic alopecia) is significantly linked to decreased scalp sensitivity, but not temperature sensitivity. More research is needed to confirm this. Comparing this hair loss to leprosy is unsupported and stigmatizing.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Do Changes in Chromosomes Cause Aging?
Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.
research Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans
Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
research Klhl24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Hair Growth Regulation by Fibroblast Growth Factor 12 (FGF12)
FGF12 is important for hair growth and could be targeted for hair loss treatment.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Deep Hair Phenomics: Implications in Endocrinology, Development, and Aging
A new tool can analyze hair to detect changes due to hormones, genetics, and aging.
research Epidermal Stem Cells in Wound Healing and Their Clinical Applications
Epidermal stem cells help heal severe skin wounds and have potential for medical treatments.
research Alopecia Areata: What’s New in Epidemiology, Pathogenesis, Diagnosis, and Therapeutic Options?
New insights into the causes and treatments for the autoimmune hair loss condition Alopecia areata have been made.
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.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Aberrant Wnt Signaling Induces Comedo-Like Changes in the Murine Upper Hair Follicle
Overactive Wnt signaling in mouse skin stem cells causes acne-like cysts and shrinking oil glands, which some treatments can partially fix.
research Research Techniques Made Simple: Zebrafish Models for Human Dermatologic Disease
Zebrafish are useful for studying and developing treatments for human skin diseases.
research Commentary 2
Genetic factors play a major role in acne.