research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
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research 3212 Isolated basilar artery reversible cerebral vasoconstriction syndrome associated with finasteride and vaping
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
research Fractional microneedle radiofrequency - mechanism of action and assessment of safety, effectiveness in the treatment, and possible side effects based on a review of scientific literature
Fractional microneedle radiofrequency is a safe and effective skin treatment with minimal serious side effects.
research Left Anterior Descendent Coronary Artery Fistula to Main Pulmonary Artery with Triple Vessel Disease:A Report of Two Cases
Two patients with heart issues had successful surgeries and improved symptoms.
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 The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Food Deprivation-induced Expression of Minoxidil Sulfotransferase in the Hypothalamus Uncovered by Microarray Analysis
Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
research Madarosis: A dermatological marker
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research Age-related changes in the dorsal skin histology in Mini and Wistar rats.
Mini rats have thinner skin, more fat, and different hair cycles than Wistar rats due to lower growth hormone levels.
research MSF-VMDNet for multi class segmentation of skin cancer whole slide images using a multi frequency dual encoder network
MSF-VMDNet accurately segments skin cancer images better than existing methods.
research ダブルストロボレンジファインダの開発(特別講演)(画像センシングおよび一般)
Some prostate cancers have gene changes that may affect treatment with certain drugs.
research PD02-05 SRD5A2 EXPRESSION IS A PREDICTOR OF RESPONSE TO FINASTERIDE IN THE MTOPS TRIAL
Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Depletion of Gsdma1/2/3 alleviates PMA-induced epidermal hyperplasia by inhibiting the EGFR–Stat3/Akt pathway
Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Low-Dose Dimethyl Sulfoxide (DMSO) Suppresses Androgen Receptor (AR) and Its Splice Variant AR-V7 in Castration-Resistant Prostate Cancer (CRPC) Cells
Low-dose DMSO may help treat castration-resistant prostate cancer by reducing key cancer cell receptors.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Methicillin Resistant Staphylococcus aureus (MRSA) Infection in Canines and its Public Health Importance
MRSA in dogs can spread to humans, so infection control is crucial.
research MicroRNA 조절을 통한 상처 치유 기전에 관한 연구
MIR135b affects wound healing by targeting genes, and PDRN may help heal wounds by altering this pathway.
research Supercharged Mechanical Stromal-Cell Transfer (MEST)
The MEST method increases cell yield and volume for regenerative medicine but needs more testing.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Increasing mupirocin resistance in pediatric methicillin-resistant Staphylococcus aureus skin and soft-tissue infections in New York: A genomic approach
There's a growing resistance to the antibiotic mupirocin in children's skin infections caused by MRSA in New York.
research Three-Dimensional Dynamic MR-Hysterosalpingography: A New, Low Invasive, Radiation-Free and Less Painful Radiological Approach to Female Infertility
This new method makes checking for female infertility less painful, less invasive, and doesn't use radiation.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.