research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
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research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Peripheral MC1R Activation Modulates Immune Responses and is Neuroprotective in a Mouse Model of Parkinson’s Disease
NDP-MSH protects brain cells and reduces inflammation in Parkinson's disease by activating MC1R and involving Tregs.
research Mdm2-p53 Signaling in Tissue Homeostasis and the DNA Damage Response: A Dissertation
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Body Dysmorphic Disorder, Psychiatric Symptoms, and Quality of Life in Female Dermatological Patients
Women with skin conditions who have body image concerns often experience mental health issues and a lower quality of life.
research Trichoscopic Differentiation in Alopecia: Retrospective Case Series Comparing Lichen Planopilaris, Discoid Lupus Erythematosus, and Alopecia Areata
Exclamation-mark hairs and yellow dots indicate alopecia areata, while follicular ostia loss and white scarring indicate lichen planopilaris and discoid lupus erythematosus.
research Use of oral minoxidil for androgenetic alopecia in transgender and gender-diverse people. A retrospective study of 27 patients.
Oral minoxidil can effectively treat hair loss in transgender and gender-diverse individuals.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
AMN can cause bladder problems due to nerve damage.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Analysis of a multiple nuclear dots pattern in a large cohort of dermatological patients.
Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.
research P-50 WE KNOW YOU ARE THERE: MISSING MASS
Metyrapone can effectively treat Cushing's Disease even if the mass causing it is not found.
research LB1682 Association of inflammatory and pigmentary disorders with alcohol use disorder and psychiatric illness
People with certain skin disorders are more likely to have alcohol problems, especially if they also have mental health issues like depression and anxiety.
research Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research 311 Single-cell transcriptomics reveals distinct molecular programs in folliculotropic mycosis fungoides
Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research A childhood case of trichotillomania associated with body dysmorphic disorder and stigmatization due to outstanding red hair
A girl with red hair developed hair-pulling and body image disorders after being bullied for her hair color.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research UTMD Enhances Targeting of Diclofenac and Doxil® to Boost Tumor Immunotherapy
UTMD with diclofenac and Doxil® improves cancer treatment by boosting immune response and reducing tumor-supporting cells.
research Molecular Morbidity Score–Can MicroRNAs Assess the Burden of Disease?
MicroRNAs could help assess and manage multiple chronic diseases.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
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.