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205 results

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Quoted phrase not found in phrase index: "Abnormal peroxisomal morphology"
Page 1
Diabetes and Cognitive Impairment.
Zilliox LA, Chadrasekaran K, Kwan JY, Russell JW. Zilliox LA, et al. Curr Diab Rep. 2016 Sep;16(9):87. doi: 10.1007/s11892-016-0775-x. Curr Diab Rep. 2016. PMID: 27491830 Free PMC article. Review.
Both type 1 (T1DM) and type 2 diabetes mellitus (T2DM) have been associated with reduced performance on multiple domains of cognitive function and with evidence of abnormal structural and functional brain magnetic resonance imaging (MRI). ...The pathophysiology includes de …
Both type 1 (T1DM) and type 2 diabetes mellitus (T2DM) have been associated with reduced performance on multiple domains of cognitive functi …
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F. Depreter M, et al. Microsc Res Tech. 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. Microsc Res Tech. 2003. PMID: 12740827 Review.
Peroxisomes are single membrane-bound cell organelles performing numerous metabolic functions. ...Together with other laboratory investigations and clinical data, this approach continues to contribute to the diagnosis and further characterization of peroxisomal diso
Peroxisomes are single membrane-bound cell organelles performing numerous metabolic functions. ...Together with other laboratory inve
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O. Aubourg P, et al. J Neurol Neurosurg Psychiatry. 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. J Neurol Neurosurg Psychiatry. 1986. PMID: 2420940 Free PMC article.
Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa. ...Increased plasma levels of very long chain fatty acids (8/8), phytanic acid (7/8) and bile fluid t …
Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, h …
Peroxisomal disorders.
Moser HW, Bergin A, Cornblath D. Moser HW, et al. Biochem Cell Biol. 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. Biochem Cell Biol. 1991. PMID: 1724376 Review.
The recognition that the organelle is significant in mammals was ushered in by Paul Lazarow's observation that rat peroxisomes catalyze the beta-oxidation of fatty acids. By 1981, more than 40 enzymes had been localized to the peroxisome, and the number continues to …
The recognition that the organelle is significant in mammals was ushered in by Paul Lazarow's observation that rat peroxisomes cataly …
The peroxisome and the eye.
Folz SJ, Trobe JD. Folz SJ, et al. Surv Ophthalmol. 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. Surv Ophthalmol. 1991. PMID: 1710072 Free article. Review.
Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the peroxisome, a subcellular organelle. The peroxisomal disorders have been divided into three groups: 1) those that result from defectiv …
Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the perox
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela M, Jani P, Zein WM, D'Souza P, Wolfe L, Chisholm J, Zalewski C, Adams D, Warner BM, Huryn LA, Hufnagel RB. Daich Varela M, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):618-630. doi: 10.1002/ajmg.c.31823. Epub 2020 Aug 31. Am J Med Genet C Semin Med Genet. 2020. PMID: 32866347 Free PMC article.
The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. ...We suggest that peroxisomal disorders are considered in e …
The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with se …
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.
Poll-The BT, Gärtner J. Poll-The BT, et al. Biochim Biophys Acta. 2012 Sep;1822(9):1421-9. doi: 10.1016/j.bbadis.2012.03.011. Epub 2012 Mar 28. Biochim Biophys Acta. 2012. PMID: 22483868 Free article. Review.
Peroxisomal disorders are an important group of neurometabolic diseases. ...This article discusses the role of MRI findings in the clinical approach of peroxisomal disorders with neurological disease....
Peroxisomal disorders are an important group of neurometabolic diseases. ...This article discusses the role of MRI findings in the cl
Polymicrogyria: a common and heterogeneous malformation of cortical development.
Stutterd CA, Leventer RJ. Stutterd CA, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):227-39. doi: 10.1002/ajmg.c.31399. Epub 2014 May 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 24888723 Review.
It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. ...Both genetic and non-genetic causes of PMG have been i …
It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation w …
VDR-SOX2 signaling promotes colorectal cancer stemness and malignancy in an acidic microenvironment.
Hu PS, Li T, Lin JF, Qiu MZ, Wang DS, Liu ZX, Chen ZH, Yang LP, Zhang XL, Zhao Q, Chen YX, Lu YX, Wu QN, Pu HY, Zeng ZL, Xie D, Ju HQ, Luo HY, Xu RH. Hu PS, et al. Signal Transduct Target Ther. 2020 Sep 9;5(1):183. doi: 10.1038/s41392-020-00230-7. Signal Transduct Target Ther. 2020. PMID: 32900990 Free PMC article.
Our study revealed that acidosis reduced VDR expression by downregulating peroxisome proliferator-activated receptor delta (PPARD) expression. ...These findings reveal a new mechanism by which acidosis could affect the stemness of CRC cells by regulating the expression of …
Our study revealed that acidosis reduced VDR expression by downregulating peroxisome proliferator-activated receptor delta (PPARD) ex …
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.
Ferdinandusse S, Ebberink MS, Vaz FM, Waterham HR, Wanders RJ. Ferdinandusse S, et al. J Inherit Metab Dis. 2016 Jul;39(4):531-43. doi: 10.1007/s10545-016-9922-4. Epub 2016 Mar 4. J Inherit Metab Dis. 2016. PMID: 26943801 Free PMC article. Review.
Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as increased very long-chain fatty acid or reduced plasmalogen levels. The metabolite abnormalities in peroxisomal disorders are
Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as
205 results