Results 31 to 40 of about 4,011,809 (261)

DDIT4 Novel Mutations in Pancreatic Cancer

Gastroenterology Research and Practice, 2021
Pancreatic cancer is one of the most common malignancies worldwide. This study is aimed at searching the possible genetic mutations and the value of novel gene mutation in the DNA damage-inducible transcript 4 (DDIT4) and signaling pathway in pancreatic ...
Fadian Ding, Xiaoping Hong, Xiangqun Fan, Shirong Huang, Wei Lian, Xingting Chen, Qicai Liu, Youting Chen, Feng Gao   +8 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Sarah Hohmann, Hanspeter Goldschmidt, Hohmann, Sarah, Thomas Gudermann, Remschmidt, Helmut, Geller, Frank, Wolfgang Siegfried, Hebebrand, Johannes, Schäfer, Helmut, Anke Hinney, Siegfried, Wolfgang, Brokamp, Britta, Hess, Claudia, Hinney, Anke, Wermter, Anne-Kathrin, Goldschmidt, Hanspeter, Frank Geller, Constanze Vogel, Johannes Hebebrand, Britta Brokamp, Vogel, Constanze, Helmut Remschmidt, Gudermann, Thomas, Claudia Hess, Anne-kathrin Wermter   +24 more
core   +1 more source

The impact of carbon-ion beam irradiation on the phenotypic and molecular variation of wheat

BMC Plant Biology
Background Heavy ion beam irradiation is a potent mutagenic technique for developing new germplasm resources and breeding novel plant varieties. However, the biological effects and molecular variations caused by different dosages of heavy ion beam ...
Huihui Fan, Qianwen Xue, Hongchun Xiong, Huijun Guo, Yongdun Xie, Linshu Zhao, Jiayu Gu, Shirong Zhao, Yuping Ding, Huiyuan Li, Libin Zhou, Luxiang Liu   +11 more
doaj   +1 more source

A case report of congenital bullous ichthyosiform erythroderma caused by a mutation of KRT10 gene

Pifu-xingbing zhenliaoxue zazhi, 2022
Objective To identify KRT1 and KRT10 gene mutation in a patient with bullous ichthyosiform erythroderma (BCIE). Methods Peripheral bloods of the patient and her families were collected and DNAs were extracted.
Yichuan GAN, Sanquan ZHANG, Xiaodong LI, Rujun XUE, Yidan FU, Biaoyi LUO, Wei LI   +6 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]

, 2013
Frontotemporal lobar degeneration (FTLD) is the one of the most frequent neurodegenerative disorders characterized by behavioral and executive impairment, language disorders and motor dysfunction.
Holton, Janice L., Tammaryn Lashley, Treacy, Rebecca, Laura Calo, Michel Goedert, Parmar, Malin,, Muqit, Miratul M. K., Janice L. Holton, Revesz, Tamas, Lashley, Tammaryn, Mariangela Iovino, Tamas Revesz, Robert J. Swingler, Pfisterer, Ulrich, Swingler, Robert J., Malin Parmar, Maria Grazia Spillantini, Calo, Laura, Ulrich Pfisterer, Miratul M. K. Muqit, Parmar, Malin, Spillantini, Maria Grazia, Iovino, Mariangela, Pfisterer, Ulrich,, Lund University., Iovino, Mariaangela, Goedert, Michel, Rebecca Treacy   +27 more
core   +1 more source

X-ray-mediated isolated microspore mutagenesis: a system for salt-tolerant line development in wheat (Triticum aestivum L.)

Plant Methods
Background Establishing a technical system for in vitro mutagenesis and salt tolerance screening of wheat microspores is crucial for accelerating the homozygous stabilization of mutant progeny, creating novel salt‑tolerant wheat germplasm, and enabling ...
Wenlu Tan, Hui Li, Huijun Guo, Yongdun Xie, Huiyuan Li, Jiayu Gu, Hongchun Xiong, Yuping Ding, Le Xu, Linshu Zhao, Luxiang Liu   +10 more
doaj   +1 more source

Pediatric Idiopathic Multicentric Castleman Disease Is Often Severe But Responsive to Siltuximab

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Idiopathic multicentric Castleman disease (iMCD) is a potentially fatal immunologic disorder marked by widespread lymphadenopathy and inflammation. Siltuximab, an interleukin‐6 (IL‐6) inhibitor, is the only FDA‐approved treatment for adult patients with iMCD.
Bridget Austin, Sheila K. Pierson, Kelley C. Dacus, Mateo Sarmiento Bustamante, Saishravan Shyamsundar, Larissa Borys, Kayla McHugh, Abiola Irvine, Yoojin Jo, Adam Bagg, Mary Jo Lechowicz, Daisy Alapat, Amy Chadburn, Megan S. Lim, Gordan Srkalovic, Frits van Rhee, David C. Fajgenbaum, Joshua D. Brandstadter   +17 more
wiley   +1 more source

Characterization of wheat oligo‐tiller mutant ot2 and fine mapping of the mutant gene Taot2

The Plant Genome
Tiller number is a crucial determinant of grain yield in wheat (Triticum aestivum L.), and identifying functional alleles can enhance our understanding of wheat tiller development. Here, we describe the ot2 wheat mutant, which exhibits a 91% reduction in
Chenxi Wang, Jiaxing Bai, Hongchun Xiong, Yongdun Xie, Jiayu Gu, Linshu Zhao, Huiyuan Li, Yuping Ding, Xinmei Guo, Huijun Guo, Luxiang Liu   +10 more
doaj   +1 more source