Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome

Autor: Steven J. Fliesler, Sriganesh Ramachandra Rao, Sithara Raju Ponny, Ned A. Porter, Shailendra B. Patel, Vincent Fong, Babu Nageswararao Kanuri, Keri A. Tallman

Publikováno v: Journal of Lipid Research, Vol 62, Iss, Pp 100002-(2021)
Journal of Lipid Research

Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes the enzyme 3β-hydroxysterol-Δ7 reductase. SLOS patients present clinically with dysmorphology and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::628669fe15a4d77e5ef7fd0fbdf15f34
http://www.sciencedirect.com/science/article/pii/S0022227520437046

Growth hormone receptor-deficient pigs resemble the pathophysiology of human Laron syndrome and reveal altered activation of signaling cascades in the liver

Autor: Martin Bidlingmaier, Birgit Rathkolb, Martin Hrabĕ de Angelis, Arne Hinrichs, Werner F. Blum, Sebastian Bultmann, Heinrich Leonhardt, Maik Dahlhoff, Simone Renner, Andreas Blutke, Eckhard Wolf, Barbara Kessler, Andreas Hoeflich, Hiroshi Nagashima, Maren Bernau, Mayuko Kurome, Rüdiger Wanke, Elisabeth Kemter, Armin M. Scholz

Publikováno v: Molecular Metabolism, Vol 11, Iss, Pp 113-128 (2018)
Molecular Metabolism
Mol. Metab. 11, 113-128 (2018)
Molecular metabolism, 11: 113-128

Objective Laron syndrome (LS) is a rare, autosomal recessive disorder in humans caused by loss-of-function mutations of the growth hormone receptor (GHR) gene. To establish a large animal model for LS, pigs with GHR knockout (KO) mutations were gener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c4a72923ebcdfb6d5ba81facbff4eb
http://www.sciencedirect.com/science/article/pii/S2212877818302114

Intestinal GATA4 deficiency protects from diet-induced hepatic steatosis

Autor: Prakash Doddapattar, Sascha Obrowsky, Gerald Hoefler, Dagmar Kratky, Sanja Levak-Frank, Michele A. Battle, Jay V. Patankar

Publikováno v: Journal of Hepatology

Background & Aims GATA4, a zinc finger domain transcription factor, is critical for jejunal identity. Mice with an intestine-specific GATA4 deficiency ( GATA4 iKO) are resistant to diet-induced obesity and insulin resistance. Although they have decre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f8b3365dced3ff43b0dcc84c681f1b
http://europepmc.org/articles/PMC3477492

ZBTB20 regulates WNT/CTNNB1 signalling pathway by suppressing PPARG during hepatocellular carcinoma tumourigenesis.

Autor: To JC; Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR., Chiu AP; Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR., Tschida BR; Masonic Cancer Center, Department of Pediatrics, and Center for Genome Engineering, University of Minnesota, Minneapolis, MN, 55455, USA., Lo LH; Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR., Chiu CH; Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR., Li XX; Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR., Kuka TP; Masonic Cancer Center, Department of Pediatrics, and Center for Genome Engineering, University of Minnesota, Minneapolis, MN, 55455, USA.; College of Natural Sciences, The University of Texas at Austin, Austin, TX, 78712, USA., Linden MA; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, 55455, USA., Amin K; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, 55455, USA., Chan WC; Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR., Bell JB; Masonic Cancer Center, Department of Pediatrics, and Center for Genome Engineering, University of Minnesota, Minneapolis, MN, 55455, USA., Moriarity BS; Masonic Cancer Center, Department of Pediatrics, and Center for Genome Engineering, University of Minnesota, Minneapolis, MN, 55455, USA., Largaespada DA; Masonic Cancer Center, Department of Pediatrics, and Center for Genome Engineering, University of Minnesota, Minneapolis, MN, 55455, USA., Keng VW; Department of Applied Biology and Chemical Technology, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR.; State Key Laboratory of Chemical Biology and Drug Discovery, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR.

Publikováno v: JHEP reports : innovation in hepatology [JHEP Rep] 2020 Dec 19; Vol. 3 (2), pp. 100223. Date of Electronic Publication: 2020 Dec 19 (Print Publication: 2021).

UHRF1 promotes proliferation of gastric cancer via mediating tumor suppressor gene hypermethylation.

Autor: Zhou L; a Department of Medical Affairs ; The 88th Hospital of PLA ; Tai'an , China., Shang Y, Jin Z, Zhang W, Lv C, Zhao X, Liu Y, Li N, Liang J

Publikováno v: Cancer biology & therapy [Cancer Biol Ther] 2015; Vol. 16 (8), pp. 1241-51. Date of Electronic Publication: 2015 Jul 06.