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The Application of Clinical Genetics

The Application of Clinical Genetics, 2012
Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
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Expert Consensus on the Application of Ulinastatin in Common Clinical Critical Illness [PDF]

Zhongguo quanke yixue, 2023
Ulinastatin is mainly applied in the treatment of acute pancreatitis, but also in other common clinical critical illnesses such as shock, sepsis, evere pneumonia, cute respiratory distress syndrome, several acute poisoning, severe heat stroke, severe ...
Expert group of expert consensus on the application of ulinastatin in common clinical critical illness
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Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs

Scientific Reports, 2023
Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats (CTGexp) in the dystrophia myotonica protein kinase (DMPK) gene, and the transcription products, expanded CUG repeats, sequester muscleblind like splicing regulator 1 (MBNL1), resulting in
Ryu Kawada, Tatsuya Jonouchi, Akihiro Kagita, Masae Sato, Akitsu Hotta, Hidetoshi Sakurai   +5 more
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Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice

Stem Cell Research & Therapy, 2021
Background Mesenchymal stromal cells (MSCs) function as supportive cells on skeletal muscle homeostasis through several secretory factors including type 6 collagen (COL6).
Nana Takenaka-Ninagawa, Jinsol Kim, Mingming Zhao, Masae Sato, Tatsuya Jonouchi, Megumi Goto, Clémence Kiho Bourgeois Yoshioka, Rukia Ikeda, Aya Harada, Takahiko Sato, Makoto Ikeya, Akiyoshi Uezumi, Masashi Nakatani, Satoru Noguchi, Hidetoshi Sakurai   +14 more
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Systemic Supplementation of Collagen VI by Neonatal Transplantation of iPSC-Derived MSCs Improves Histological Phenotype and Function of Col6-Deficient Model Mice

Frontiers in Cell and Developmental Biology, 2021
Collagen VI is distributed in the interstitium and is secreted mainly by mesenchymal stromal cells (MSCs) in skeletal muscle. Mutations in COL6A1-3 genes cause a spectrum of COL6-related myopathies.
Aya Harada, Megumi Goto, Atsuya Kato, Nana Takenaka-Ninagawa, Akito Tanaka, Satoru Noguchi, Makoto Ikeya, Hidetoshi Sakurai   +7 more
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Induction of functional xeno-free MSCs from human iPSCs via a neural crest cell lineage

npj Regenerative Medicine, 2022
Mesenchymal stem/stromal cells (MSCs) are adult multipotent stem cells. Here, we induced MSCs from human induced pluripotent stem cells (iPSCs) via a neural crest cell (NCC) lineage under xeno-free conditions and evaluated their in vivo functions.
Daisuke Kamiya, Nana Takenaka-Ninagawa, Souta Motoike, Mikihito Kajiya, Teppei Akaboshi, Chengzhu Zhao, Mitsuaki Shibata, Sho Senda, Yayoi Toyooka, Hidetoshi Sakurai, Hidemi Kurihara, Makoto Ikeya   +11 more
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ZEB2 and MEIS1 independently contribute to hematopoiesis via early hematopoietic enhancer activation

iScience, 2023
Summary: Cell differentiation is achieved by acquiring a cell type-specific transcriptional program and epigenetic landscape. While the cell type-specific patterning of enhancers has been shown to precede cell fate decisions, it remains unclear how ...
Yohko Kitagawa, Akihiro Ikenaka, Ryohichi Sugimura, Akira Niwa, Megumu K. Saito   +4 more
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Clinical Applications of Proteomics [PDF]

The Journal of Nutrition, 2003
Proteomics, the systematic evaluation of changes in the protein constituency of a cell, is more than just the generation of lists of proteins that increase or decrease in expression as a cause or consequence of disease. The ultimate goal is to characterize the information flow through protein pathways that interconnect the extracellular ...
Emanuel F, Petricoin, Lance A, Liotta
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N-Acetylcysteine prevents amyloid-β secretion in neurons derived from human pluripotent stem cells with trisomy 21

Scientific Reports, 2021
Down syndrome (DS) is caused by the trisomy of chromosome 21. Among the many disabilities found in individuals with DS is an increased risk of early-onset Alzheimer's disease (AD).
Hiromitsu Toshikawa, Akihiro Ikenaka, Li Li, Yoko Nishinaka-Arai, Akira Niwa, Akira Ashida, Yasuhiro Kazuki, Tatsutoshi Nakahata, Hiroshi Tamai, David W. Russell, Megumu K. Saito   +10 more
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Pre-clinical study of induced pluripotent stem cell-derived dopaminergic progenitor cells for Parkinson’s disease

Nature Communications, 2020
Induced pluripotent stem cell (iPSC) derived dopaminergic neurons are a promising source for cell-based Parkinson’s disease (PD) therapy. Here the authors report a comprehensive pre-clinical evaluation of the safety and efficacy of dopaminergic ...
Daisuke Doi, Hiroaki Magotani, Tetsuhiro Kikuchi, Megumi Ikeda, Satoe Hiramatsu, Kenji Yoshida, Naoki Amano, Masaki Nomura, Masafumi Umekage, Asuka Morizane, Jun Takahashi   +10 more
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