Results 81 to 90 of about 955 (143)

Additional file 2: Figure S1. of Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease

, 2017
SUMF1 expression in blood from COPD patients and controls. Total SUMF1 mRNA expression was examined in whole blood from COPD patients and controls in the Lund cohort. A.U. = Arbitrary units. Figure S2. SUMF1 expression in sputum cells and lung fibroblasts divided by rs793391 genotypes. SUMF1 expression, including the three splice variants, was examined
Weidner, Julie, Jarenbäck, Linnea, Jong, Kim De, Vonk, Judith, Berge, Maarten Van Den, Corry-Anke Brandsma, H. Boezen, Sin, Don, Yohan Bossé, Nickle, David, Ankerst, Jaro, Bjermer, Leif, Postma, Dirkje, Faiz, Alen, Tufvesson, Ellen   +14 more
openaire   +1 more source

Structure and expression of sulfatase and sulfatase modifying factor genes in the diamondback moth, Plutella xylostella [PDF]

, 2018
The diamondback moth, Plutella xylostella (L.), uses sulfatases (SULF) to counteract the glucosinolate-myrosinase defensive system that cruciferous plants have evolved to deter insect feeding.
You, MS, Qi, WP, Baxter, SW, He, WY, Zou, MM, You, YC, Wang, P, Ma, XL, Xu, XJ, Chen, W   +9 more
core   +1 more source

Causal links between gut microbiomes, cytokines and risk of different subtypes of epilepsy: a Mendelian randomization study

Frontiers in Neuroscience
ObjectiveRecent research suggests a potential link between the gut microbiome (GM) and epilepsy. We undertook a Mendelian randomization (MR) study to determine the possible causal influence of GM on epilepsy and its various subtypes, and explore whether ...
Youjia Qiu, Bingyi Song, Minjia Xie, Yuchen Tao, Ziqian Yin, Menghan Wang, Chao Ma, Zhouqing Chen, Zhong Wang   +8 more
doaj   +1 more source

Prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations.
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Meng-Shan Lee, Wayseen Wang   +5 more
doaj   +1 more source

Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.

, 2011
Multiple sulfatase deficiency (MSD), a severe autosomal recessive disease is caused by mutations in the sulfatase modifying factor 1 gene (Sumf1). We have previously shown that in the Sumf1 knockout mouse model (Sumf1(-/-)) sulfatase activities are ...
Carmine Spampanato, Nicolina Cristina Sorrentino, Russo F, Elvira De Leonibus, Alessandro Fraldi, Fabio Russo, Spampanato C, FRALDI, ALESSANDRO, Nusco E, Paola Dama, BALLABIO, ANDREA, Dama P, AURICCHIO, ALBERTO, Andrea Ballabio, De Leonibus E, Annagiusi Gargiulo, Sorrentino NC, Edoardo Nusco, SURACE, Enrico Maria, Alberto Auricchio, Gargiulo A, Enrico M Surace   +21 more
core   +1 more source

Additional file 1: Table S1. of Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease

, 2017
Primer sequences used for qPCR. Table S2. Characteristics of controls and COPD patients who could expectorate an adequate sputum. Table S3. Characteristics of COPD patients from whom lung fibroblasts were obtained. Table S4. Characteristics of subjects included in the LifeLines cohort. Table S5.
Weidner, Julie, Jarenbäck, Linnea, de Jong, Kim, Vonk, Judith, van den Berge, Maarten, Brandsma, Corry-Anke, Boezen, H., Sin, Don, BossĂŠ, Yohan, Nickle, David, Ankerst, Jaro, Bjermer, Leif, Postma, Dirkje, Faiz, Alen, Tufvesson, Ellen   +14 more
openaire   +1 more source

Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.

, 2008
Multiple sulfatase deficiency (MSD) is an inherited lysosomal storage disease that affects post-translational activation of all of the sulfatases. Since biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases ...
YİŞ, ULUÇ, BALLABIO, ANDREA, Cosma M. P., Kurul, Semra Hiz, Pepe S., Dirik E., Cosma, Maria Pia, Kurul S. H., Pepe, Stefano, Yiş U., Dirik, Eray   +10 more
core   +1 more source

Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]

, 2009
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H., van de Leemput, J C H   +1 more
core  

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

, 2003
In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated
COSMA MP, BALLABIO, ANDREA, ANNUNZIATA I, PEPE S, GROMPE M, PARENTI, GIANCARLO, NEWBOLD RF   +6 more
core   +2 more sources

Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes

, 2010
Background aimsMucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) in which an absence of sulfamidase results in incomplete degradation and subsequent accumulation of its substrate, heparan sulfate. Most neurodegenerative LSD
Hopwood, J., Karageorgos, L., Hutchinson, R., Hemsley, K., Zhao, G.   +4 more
core   +1 more source