Results 251 to 260 of about 239,120 (310)

The Actin‐Binding Prolyl‐Isomerase Par17 Sustains Its Substrate Selectivity by Interdomain Allostery

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT The human peptidyl‐prolyl‐cis/trans isomerases (PPIases), Parvulin 14 and Parvulin 17, accelerate the cis/trans isomerization of Xaa‐Pro moieties within protein sequences. By modulating the respective binding interfaces of their target proteins, they play a crucial role in determining the fate of their substrates within the cell. Although both
Anna Sternberg, Jennifer Lynne Borger, Mathilda Thies, Anja Matena, Mike Blueggel, Bianca E. Kamba, Christine Beuck, Farnusch Kaschani, Markus Kaiser, Peter Bayer   +9 more
wiley   +1 more source

A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis. [PDF]

Appl Clin Genet
Qiao F, Zeng H, Zhang C, Wang Y, Wang Y, Zhou R, Meng L, Hu P, Xu Z.   +8 more
europepmc   +1 more source

Rediscovery of the Tubulin β‐4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria

Movement Disorders, EarlyView.
Omar Keritam, Susann Badmann, Maureen Jacob, Philip Harrer, Christine Klein, Annabella Kurz, Hakan Cetin, Michael Zech   +7 more
wiley   +1 more source

Whole‐exome sequencing in families from Lifou Island (New Caledonia) reveals candidate variants involved in gout pathogenesis

Rheumatology &Autoimmunity, EarlyView.
Strategy to identify variants involved in gout pathogenesis in New Caledonia. Abstract Background Gout, which manifests as severe inflammation caused by excessive serum urate levels and monosodium urate deposits in the joints, is associated with multiple genomic loci in Europeans.
Philippe Georgel, Yves‐Marie Ducrot, Anne Molitor, Nicodème Paul, Lydie Naegely, Antoine Hanauer, Thomas Bardin, Gaston Rijo de Leon, Etienne Patin, Luis Quintana‐Murci, Mariko Matsui, Marc Jouan, Seiamak Bahram, Raphael Carapito   +13 more
wiley   +1 more source

A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles. [PDF]

Protein Sci
Mandl Š, Di Geronimo B, Alonso-Gil S, Grininger C, George G, Ferstl U, Herzog SA, Žagrović B, Nusshold C, Pavkov-Keller T, Sánchez-Murcia PA.   +10 more
europepmc   +1 more source

Integrating construction and spatial imaging of organoid for tumor metabolic heterogeneity and interactions

VIEW, EarlyView.
Enzymatically derived tissue debris (TD) is utilized to establish patient‐derived lung cancer tissue spheres (LCOs), which, in conjunction with mass spectrometry imaging, enable the investigation of tumor metabolic heterogeneity and maintenance of CSCs.
Ling Guo, Zhaohua Xia, Jiaxin Wang, Xiaoling Yu, Chuanyue Wu, Qian Luo, Chao Zhao   +6 more
wiley   +1 more source

Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults. [PDF]

World J Gastroenterol
Weng YH, Zheng YF, Yin DD, Xiong QF, Li JL, Li SX, Chen W, Yang YF.   +7 more
europepmc   +1 more source

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association; Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care, Hong‐Yang Wang, Guo‐Hui Nie, Xiao‐Nan Wu, Ding‐Jun Zha, Tao Shi, Hai‐Bo Shi, Yong Feng, Wen‐Yan Li, Hai‐Hong Liu, Qing Zhang, Xiao‐Wei Chen, Xia Gao, Yong‐Xin Li, Lu Ma, Jin Li, Dan‐Yang Li, Xiao‐Long Zhang, Meng‐Tao Song, Xin Zhou, Lan Lan, Lan Yu, Meng‐Qian Zhang, Wei Shi, Fen Xiong, Lin‐Yi Xie, Guo‐Hui Chen, Kai‐Li Wu, Xiao‐Qian Ren, Qiu‐Jing Zhang, Ming‐Hui Zhao, Zi‐Yi Chen, Fei Ji, Jiao Zhang, Jing Guan, Da‐Yong Wang, Ren‐Jie Chai, Xin Jin, Hua‐Wei Li, Shi‐Ming Yang, Shan‐Kai Yin, Qiu‐Ju Wang   +43 more
wiley   +1 more source

Allele-Specific PCR for Detection of Missense Mutations in the Chimeric <i>BCR::ABL1</i> Gene Causing Failure of Tyrosine Kinase Inhibitor Therapy in CML Patients. [PDF]

Int J Mol Sci
Skripkina A, Fevraleva I, Kuzmina E, Biderman B, Stepanova E, Chelysheva E, Turkina A, Sudarikov A.   +7 more
europepmc   +1 more source

Multilocus sequence typing of the invasive pest Halyomorpha halys (Hemiptera: Pentatomidae) and associated endosymbiont reveals unexplored diversity

Insect Science, EarlyView.
A multilocus sequence typing approach is proposed to explore Halymorpha halys genetic diversity, taking into consideration both insect nuclear markers and markers from the gut symbiont “Candidatus Pantoa carbekii.” Increased information was revealed regarding the number of distinct holobiont haplotypes in native and invasive populations of the pest ...
Matteo Dho, Matteo Montagna, Chenxi Liu, Giulia Magoga, Giobbe Forni, Alberto Alma, Elena Gonella   +6 more
wiley   +1 more source