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About 155 results

ALLMedicine™ Simpson-Golabi-Behmel Syndrome Center

Research & Reviews  62 results

Insulin-inducible THRSP maintains mitochondrial function and regulates sphingolipid met...
https://doi.org/10.1186/s10020-022-00496-3 10.1016/J.BBALIP.2020.158841 10.1016/J.CELLSIG.2020.109879 10.1093/BIOINFORMATICS/BTU638 10.1016/j.mce.2009.01.005 10.1139/o59-099 10.1093/BIOINFORMATICS/BTU170 10.1093/ps/86.9.1873 10.1016/j.cmet.2016.10.002 10.1371/journal.pone.0212341 10.1172/jci.insight.126925 10.1038/S41366-018-0203-1 10.1152/ajpendo.1979.237.3.e214 10.1186/S12974-020-01947-6 10.1093/BIOINFORMATICS/BTS635 10.1038/nprot.2009.97 10.1159/000145784 10.3177/JNSV.49.40 10.1073/PNAS.84.9.3070 10.1093/BIOINFORMATICS/BTG405 10.1016/S0022-2275(20)32341-5 10.1016/J.CMET.2021.06.006 10.1089/THY.2007.0250 10.1016/J.BBALIP.2012.02.002 10.1021/acs.analchem.8b05013 10.1021/ACS.ANALCHEM.0C02408 10.1016/J.JLR.2021.100050 10.1016/J.BJ.2020.08.009 10.1186/1471-2105-15-182/FIGURES/5 10.1016/S0021-9258(18)83799-1 10.1016/S0021-9258(17)43215-7 10.1016/J.STEMCR.2020.03.012 10.1186/1471-2164-12-507/FIGURES/5 10.1101/GAD.10.9.1096 10.1074/jbc.270.28.16615 10.1038/cdd.2017.128 10.1210/EN.2006-0473 10.1002/CPHY.C150019 10.1016/J.BBAGEN.2016.07.009 10.1016/J.BBALIP.2020.158788 10.1016/S0022-2275(20)33398-8 10.1093/CLINCHEM/48.12.2217 10.1016/j.bbalip.2004.09.003 10.1194/JLR.S120001025 10.1016/J.FEBSLET.2015.09.018 10.1186/S13059-014-0550-8/FIGURES/9 10.1126/SCIENCE.1104343/ASSET/9AB92F2B-F27C-4F4B-9E2E-35D6928CC6FB/ASSETS/GRAPHIC/307_384_F2B.JPEG 10.1016/J.IMMUNI.2012.06.016 10.1038/s41598-021-87759-x 10.1194/JLR.D700041-JLR200 10.1074/jbc.M109.061655 10.3390/IJMS20153688 10.1073/PNAS.1513943113/-/DCSUPPLEMENTAL 10.1016/J.CHEMPHYSLIP.2017.05.002 10.1038/ijo.2009.263 10.1101/GAD.329557.119 10.1214/16-AOAS920 10.1080/21675511.2015.1049793 10.1111/AGE.13005 10.1016/J.BBALIP.2019.04.016 10.1016/j.tem.2020.03.004 10.3389/FENDO.2021.635175/BIBTEX 10.2337/DIABETES.49.5.749 10.18632/ONCOTARGET.23726 10.1038/s41598-020-65182-y 10.1016/J.MOLMET.2015.07.001 10.1073/PNAS.78.8.4733 10.1093/HMG/DDZ020 10.1038/NRENDO.2018.10 10.1186/1755-8794-5-9 10.1002/HUMU.23613 10.1042/BCJ20200546 10.1111/IMM.12839 10.3389/FENDO.2020.00479/FULL 10.1210/CLINEM/DGAB072 10.1096/FJ.14-253971 10.1038/SJ.IJO.0801520 10.1016/j.gene.2004.02.021 10.1186/1471-2164-8-193 10.1007/S12185-014-1679-7 10.1113/EPH8802506 10.1038/NI.3120 10.1007/S00125-005-0075-5/FIGURES/3 10.1136/GUTJNL-2016-313155 10.1152/AJPENDO.00365.2002/ASSET/IMAGES/LARGE/H10431209006.JPEG 10.4093/DMJ.2018.0221 10.1002/HEP.26272 10.1073/PNAS.0635898100 10.2337/DIACARE.7.6.520 10.1039/C5MB00663E 10.1016/J.JASMS.2004.07.009 10.1210/ENDO.142.10.8431
Molecular Medicine (Cambridge, Mass.); Ahonen MA, Höring M et. al.

Jun 18th, 2022 - Thyroid hormone responsive protein (THRSP) is a lipogenic nuclear protein that is highly expressed in murine adipose tissue, but its role in humans remains unknown. We characterized the insulin regulation of THRSP in vivo in human adipose tissue b...

MiR-122-5p regulates the pathogenesis of childhood obesity by targeting CPEB1.
https://doi.org/10.1016/j.orcp.2022.05.006
Obesity Research & Clinical Practice; Li D, Chen J et. al.

Jun 10th, 2022 - Childhood obesity is strongly associated with inflammation which contributes to the development of several obesity-related disorders. Accumulating evidence has suggested that microRNAs (miRNAs) are involved in the pathogenesis of multiple human di...

A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragme...
https://doi.org/10.1097/MD.0000000000029222
Medicine Sha J, Tan F et. al.

Apr 29th, 2022 - The purpose of this report was to explore how to manage the fetus of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) and to provide a definite diagnosis to guide the following genetic counseling for the pregnancy. A 24-year-old women, gravida 1, par...

Hepatoblastoma in molecularly defined, congenital diseases.
https://doi.org/10.1002/ajmg.a.62767
American Journal of Medical Genetics. Part A; Nussbaumer G, Benesch M

Apr 29th, 2022 - Beckwith-Wiedemann spectrum, Simpson-Golabi-Behmel syndrome, familial adenomatous polyposis and trisomy 18 are the most common congenital conditions associated with an increased incidence of hepatoblastoma (HB). In patients with these genetic diso...

Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762945
BMC Pregnancy and Childbirth; Guo Y, Zhang H et. al.

Jan 19th, 2022 - Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vi...

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