Results 161 to 170 of about 255,701 (284)

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

, 2002
Richard van Wijk, Gert Rijksen, Eric G. Huizinga, H. Karel Nieuwenhuis, Wouter W. van Solinge   +4 more
openalex   +2 more sources

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

Clinical Pharmacology &Therapeutics, EarlyView.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe, Tao You, Daniel F. Carr, Munir Pirmohamed, Geraint Davies, Andrea L. Jorgensen, on behalf of the UNITE4TB Consortium   +6 more
wiley   +1 more source

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia [PDF]

, 2013
Sergio Laínez, Karl P. Schlingmann, Jenny van der Wijst, Bernd Dworniczak, Femke van Zeeland, Martin Konrad, René J.M. Bindels, Joost G.J. Hoenderop   +7 more
openalex   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Missense mutation of <i>BMP1</i> may cause feline osteogenesis imperfecta without bone deformity. [PDF]

J Vet Diagn Invest
Takanosu M, Aoki H, Toshima A, Kagawa Y.
europepmc   +1 more source

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family [PDF]

, 2014
Muzammil Ahmad Khan, Verena Rupp, Meritxell Orpinell, Muhammad Sajid Hussain, Janine Altmüller, Michel O. Steinmetz, Christian Enzinger, Hölger Thiele, Wolfgang Höhne, Gudrun Nürnberg, Shahid Mahmood Baig, Muhammad Ansar, Peter Nürnberg, John B. Vincent, Michael R. Speicher, Pierre Gönczy, Christian Windpassinger   +16 more
openalex   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source