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482301 to 482400 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases.
Peroxisomal disorders: the single peroxisomal enzyme deficiencies.
Localization of a portion of extranuclear ATM to peroxisomes.
Peroxisome biogenesis disorders.
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Medical-dental findings and management of a child with infantile Refsum disease: a case report.
Infantile refsum disease with enamel defects: a case report.
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.
Infantile Refsum disease in a young adult: case presentation and brief review.
Import of peroxisomal matrix and membrane proteins.
Peroxisome biogenesis disorders: genetics and cell biology.
Dark urine, pale stools , increased alkaline phosphataseDarkened skin pigmentation, hepatomegaly, xantthelasma
The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome.
Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement.
Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.
Biochemistry of mammalian peroxisomes revisited.
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Structure-function analysis of rods and cones in juvenile, adult, and aged C57bl/6 and Balb/c mice.
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice.
A syndrome associating partial albinism and immunodeficiency.
Influence of eye pigmentation and light deprivation on inherited retinal dystrophy in the rat.
PTS2 protein import into mammalian peroxisomes.
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
Rab27a mediates the tight docking of insulin granules onto the plasma membrane during glucose stimulation.
Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.
Linking albinism and immunity: the secrets of secretory lysosomes.
Inhibition of Müller glial cell division blocks regeneration of the light-damaged zebrafish retina.
In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.
Natural history of rhizomelic chondrodysplasia punctata.
M J Chin A Paw
Chest Pain, Flushing, hypertension, acute pain, intermittent, systolic hypertension
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
Perineal Swelling, Staphylococcus Aureus Infection, Suprapubic Pain
Secretory mechanisms in cell-mediated cytotoxicity.
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.
Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol.
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
Transparent adult zebrafish as a tool for in vivo transplantation analysis.
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
Phytanic acid: production from phytol, its breakdown and role in human disease.
The mosaic structure of variation in the laboratory mouse genome.
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
The import receptor Pex7p and the PTS2 targeting sequence.
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice.
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice.
Concanavalin a cap formation on polymorphonuclear leukocytes of normal and beige (chediak-higashi) mice.
Phagocytosis (third of three parts).
Intraleukocytic microbicidal defects.
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
Phagocytosis in chronic granulomatous disease and the Chediak-Higashi syndrome.
Identification of the murine beige gene by YAC complementation and positional cloning.
Use of lipophilic probes of membrane potential to assess human neutrophil activation. Abnormality in chronic granulomatous disease.
Granulocyte function in the Chediak-Higashi syndrome of mice.
Final steps in exocytosis observed in a cell with giant secretory granules.
Chest Pain, Flushing, hypertension, acute pain, intermittent
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.
Defective granulocyte chemotaxis in the Chediak-Higashi syndrome.
Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes.
Identification of the homologous beige and Chediak-Higashi syndrome genes.
The mouse gut T lymphocyte, a novel type of T cell. Nature, origin, and traffic in mice in normal and graft-versus-host conditions.
Imaging the human tympanic membrane using optical coherence tomography in vivo.
Chest Pain, Flushing, hypertension, acute pain
Iatrogenic facial nerve injury during otologic surgery.
Epidermoid tumors. Review of the literature.
Cholesteatoma. Experimental induction in the Mongolian Gerbil, Meriones Unguiculaus.
Radiographic differential diagnosis of petrous apex lesions.
Pathology of chronic otitis media.
Operative exposure and management of the petrous and upper cervical internal carotid artery.
Neoplasms of Equidae.
Langerhans cells and extra-epidermal dendritic cells. An investigation in laboratory animals and man with immunomorphological methods.
Acoustic tumor detection with brain stem electric response audiometry.
Evidence for microbial biofilms in cholesteatomas.
Experiences with a translabyrinthine-transtentorial approach to the cerebellopontine angle. Technical note.
AN X-RAY-DIFFRACTION STUDY OF CRYSTALLINE CHOLESTEROL IN SOME PATHOLOGICAL DEPOSITS IN MAN.
Readout-segmented EPI for rapid high resolution diffusion imaging at 3 T.
Diagnosis of thoracic outlet syndrome.
Thoracic outlet syndrome.
Thoracic-outlet syndrome: evaluation of a therapeutic exercise program.
Thoracic outlet compression syndrome.
Occupational risk factors associated with soft tissue disorders of the shoulder: a review of recent investigations in the literature.
Occupational causes of disorders in the upper limb.
Management of the thoracic-outlet syndrome.
Thoracic outlet syndrome.
Thoracic outlet syndrome.
Wasting of the hand associated with a cervical rib or band.
Research and prosearch.
Prevalence of tenosynovitis and other injuries of the upper extremities in repetitive work.
Neurovascular compression in the thoracic outlet: changing management over 50 years.