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[DOI] [PMC free article] [PubMed] [Google Scholar] 216.Fields R

2024;80:228.e221-228.e224

Parkin binds to / tubulin and increases their ubiquitination and degradation

Summary Definition History and exam Key diagnostic factors family history of NF1 pain, any location neurologic deficits: gross motor delay, general incoordination, school performance problems compromised vision compromised social interactions skin: caf au lait spots, axillary freckling, cutaneous juvenile xanthogranulomas, neurofibromas head and neck: unilateral diffuse plexiform neurofibroma divisions of the trigeminal nerve ophthalmologic: visual compromise, optic disk pallor, iris Lisch nodules, choroidal abnormalities central nervous system: signs of hydrocephalus, brain tumors, and/or cerebellar abnormalities peripheral nervous system: palpable mass about neck, brachial plexuses, groin, Hunter canal, or the popliteal fossae skeletal: tibial dysplasia or pseudarthrosis, sphenoid wing dysplasia, pectus excavatum or carinatum, genu valgum or varum, ankle valgus, pes planus gastrointestinal: severe constipation, obstipation, abdominal pain, gastrointestinal bleeding vascular: neurologic problems, abdominal pain (and/or hemorrhage) autism spectrum disorder vascular: hypertension Risk factors parent with type 1 neurofibromatosis (NF1) Diagnostic tests 1st tests to order clinical diagnosis Tests to consider genetic testing to confirm type 1 neurofibromatosis mutation MRI and/or CT scans PET scan biopsy Treatment algorithm pheochromocytoma malignant peripheral nerve sheath tumor or atypical neurofibromatous neoplasm of uncertain biologic potential neurofibromas: noncutaneous cutaneous headache nervous system eye oral skeletal vascular gastrointestinal hematopoietic psychological pregnancy-related Contributors Authors D

Female gut and genital tract microbiota-induced crosstalk and differential effects of short-chain fatty acids on immune sequelae

Functionally overlapping intra- and extralysosomal pathways promote bis (monoacylglycero)phosphate synthesis in mammalian cells