research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
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research Exploring the Role of GLP ‐1 Agents in Managing Diabetic Foot Ulcers: A Narrative and Systematic Review
GLP-1 receptor agonists may help manage and prevent diabetic foot ulcers.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Patched1 Functions as a Gatekeeper by Promoting Cell Cycle Progression
Patched1 helps prevent tumors by controlling cell growth.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Planar cell polarity-dependent and independent functions in the emergence of tissue-scale hair follicle patterns
Mice can correct hair follicle orientation without certain genes, but proper overall alignment needs those genes.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Topische Immuntherapie mit Diphenylcyclopropenon bei verschiedenen Typen der Alpecia areata: Assoziation zu klinischen Parametern und einem funktionellen Genpolymorphismus des Interleukin-6-Promotors
Topical immunotherapy with DPCP is most effective for certain alopecia areata types, with success linked to age and disease duration, and influenced by a gene polymorphism.
research Decaying and expanding Erk gradients process memory of skeletal size during zebrafish fin regeneration
Erk signaling helps zebrafish fins regrow to the right size by using memory of the original size.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Suppression of Wnt/β-catenin signaling by EGF receptor is required for hair follicle development
Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
research Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
research Complete sequence of a hair-like intermediate filament type II keratin gene
KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
research Characterization and functional analysis of Krtap11-1 during hair follicle development in Angora rabbits (Oryctolagus cuniculus)
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
research NLKFill: high-resolution image inpainting with a novel large kernel attention
NLKFill improves high-resolution image inpainting by effectively capturing image details and enhancing speed.
research Evaluation of Glutathione-Related Antioxidant Enzyme Activity in Patients with Polycystic Ovary Syndrome (PCOS) and Investigation of Clinical Correlations
Higher ꝩ-GCS enzyme levels in PCOS patients may play a role in the disease.
research Patient-Controlled Expansion: Applying a New Technique to Breast Reconstruction
The new patient-controlled expansion technique for breast reconstruction is safe, efficient, and cost-effective.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Annotation of sheep keratin intermediate filament genes and their patterns of expression
Sheep have 17 keratin genes, similar to humans, but with different expression patterns affecting wool and hair.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Urokinase plasminogen activator (uPA) is a positive regulator of outer root sheath keratinocyte proliferation
uPA helps hair follicle cells grow.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.