research The Feasibility and Utility of Hair Follicle Sampling To Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
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270-300 / 1000+ results research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research 567 Acute generalized exanthematous pustulosis (AGEP) induced by plaquenil
Plaquenil can cause a severe skin reaction called AGEP, requiring prompt diagnosis and treatment.
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.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Deciphering the Mesodermal Potency of Porcine Skin-Derived Progenitors (SKP) by Microarray Analysis
Pig skin cells can turn into mesodermal cells but lose their ability to become neural cells.
research 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research TRASER: Acute phase vascular and follicular changes
TRASER effectively targets blood vessels and hair follicles for potential use in vascular and hair removal treatments.
research Détection précoce de la cardiotoxicité due à la doxorubicine chez le miniporc par imagerie par résonance magnétique
Doxorubicin causes heart damage, so early detection and monitoring are important during chemotherapy.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research The Expression of P-Responsive Genes is Related to Root Hair Growth
Certain genes may promote longer root hairs in plants when phosphorus is low.
research Case report: pemphigus vulgaris in an adolescent
An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.
research Preparation of novel polymeric microspheres for controlled release of finasteride
PPCM microspheres allow controlled finasteride release over 24 hours.
research Nanocrystals for Improved Drug Delivery of Dexamethasone in Skin Investigated by EPR Spectroscopy
Nanocrystals greatly improve dexamethasone delivery into the skin.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research 1372 Modulation of YBX1 phosphorylation determines epidermal stem cell function
Changing YBX1 protein activity affects skin stem cell function and aging.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Outcomes in Clinically Relevant Patient Subgroups From the EMBRACA Study: Talazoparib vs Physician’s Choice Standard-of-Care Chemotherapy
Talazoparib is more effective than standard chemotherapy for advanced breast cancer with BRCA mutations.
research The Mammalian Hairless Protein as a DNA Binding Phosphoprotein
The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
research Grp1-associated scaffold protein regulates skin homeostasis after ultraviolet irradiation
Grasp protein helps maintain skin health after UVB exposure.
research PBX1-SIRT1 positive feedback loop attenuates ROS-mediated HF- MSC senescence and apoptosis
PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
research The Role of PPARβ/δ-Related Lipid Metabolism in High-Altitude Adaptation of Yak Coat Based on Proteomics and Metabolomics
PPARβ/δ helps yaks adapt to high altitudes by regulating lipid metabolism in their coats.
research Purple corn extract improves benign prostatic hyperplasia by inhibiting 5 alpha-reductase type 2 and inflammation in testosterone propionate-induced rats
Purple corn extract may help reduce prostate enlargement and inflammation.
research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Thirty Years of Autologous Platelet Concentrates: From Platelet‐Rich Plasma to Platelet‐Rich Fibrin
Platelet-rich fibrin (PRF) is better for natural healing, especially in dental and medical treatments.
research PROTACs in 2025: from the laboratory concept to clinical breakthrough
PROTACs have become a breakthrough in medicine by effectively targeting and degrading specific proteins to treat diseases.
research Professional skills : a pilot study and report on cross professional competencies
Long non-coding RNA Xist plays a key role in sex bias in lupus and rheumatoid arthritis, especially in females.