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Select item 96743991.

A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report

Pedro H Lucena, Carolina Nonaka, Giulia Armani-Franceschi, Pedro Carneiro, Henrique Sales, Mariana Lucena, Igor D Bandeira, Bruno Solano, Rita Lucena

Cureus. 2022 Oct; 14(10): e30486. Published online 2022 Oct 19. doi: 10.7759/cureus.30486

PMCID:: PMC9674399

Abstract Article PDF–203K

Select item 81535842.

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina

Genes (Basel) 2021 May; 12(5): 738. Published online 2021 May 13. doi: 10.3390/genes12050738

PMCID:: PMC8153584

Abstract Article PDF–583K

Select item 80840563.

Reliability and validity of SHMS v1.0 for suboptimal health status assessment of Tianjin residents and factors affecting sub-health: A cross-sectional study

Jiameng Miao, Ju Liu, Yao Wang, Yuelin Zhang, Hongxia Yuan

Medicine (Baltimore) 2021 Apr 30; 100(17): e25401. Published online 2021 Apr 30. doi: 10.1097/MD.0000000000025401

PMCID:: PMC8084056

Abstract Article PDF–226K

Select item 84892694.

Schuurs‐Hoeijmakers syndrome in a patient from Iraq ‐ Kirkuk

Sahar Adnan Abdulqader, Wafaa Abdulqader Wli, Samer Habeeb Qaryaqos

Clin Case Rep. 2021 Oct; 9(10): e04897. Published online 2021 Oct 4. doi: 10.1002/ccr3.4897

PMCID:: PMC8489269

Abstract Article PDF–288K

Select item 94560365.

Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, María Jesús Pablo, Paulino Gómez-Puertas, Feliciano J. Ramos, Gloria Bueno-Lozano, Juan Pié, Beatriz Puisac

Int J Mol Sci. 2022 Sep; 23(17): 9649. Published online 2022 Aug 25. doi: 10.3390/ijms23179649

PMCID:: PMC9456036

Abstract Article PDF–10M

Select item 71927876.

Self-Reported Secondhand Marijuana Smoke (SHMS) Exposure in Two New York City (NYC) Subsidized Housing Settings, 2018: NYC Housing Authority and Lower-Income Private Sector Buildings

Elle Anastasiou, Sumanth Chennareddy, Katarzyna Wyka, Donna Shelley, Lorna E. Thorpe

J Community Health. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: J Community Health. 2020 Jun; 45(3): 635–639. doi: 10.1007/s10900-019-00783-x

PMCID:: PMC7192787

Abstract Article PDF–300K

Select item 86466007.

Neutralizing Antibodies to SARS‐CoV‐2 Selected from a Human Antibody Library Constructed Decades Ago

Min Qiang, Peixiang Ma, Yu Li, Hejun Liu, Adam Harding, Chenyu Min, Fulian Wang, Lili Liu, Meng Yuan, Qun Ji, Pingdong Tao, Xiaojie Shi, Zhean Li, Teng Li, Xian Wang, Yu Zhang, Nicholas C. Wu, Chang‐Chun D. Lee, Xueyong Zhu, Javier Gilbert‐Jaramillo, Chuyue Zhang, Abhishek Saxena, Xingxu Huang, Hou Wang, William James, Raymond A. Dwek, Ian A. Wilson, Guang Yang, Richard A. Lerner

Adv Sci (Weinh) 2022 Jan; 9(1): 2102181. Published online 2021 Oct 29. doi: 10.1002/advs.202102181

PMCID:: PMC8646600

Abstract Article PDF–4.2M

Select item 95767188.

HIV-1 CD4-binding site germline antibody–Env structures inform vaccine design

Kim-Marie A. Dam, Christopher O. Barnes, Harry B. Gristick, Till Schoofs, Priyanthi N. P. Gnanapragasam, Michel C. Nussenzweig, Pamela J. Bjorkman

Nat Commun. 2022; 13: 6123. Published online 2022 Oct 17. doi: 10.1038/s41467-022-33860-2

PMCID:: PMC9576718

Abstract Article PDF–5.5M

Select item 94875899.

IgIDivA: immunoglobulin intraclonal diversification analysis

Laura Zaragoza-Infante, Valentin Junet, Nikos Pechlivanis, Styliani-Christina Fragkouli, Serovpe Amprachamian, Triantafyllia Koletsa, Anastasia Chatzidimitriou, Maria Papaioannou, Kostas Stamatopoulos, Andreas Agathangelidis, Fotis Psomopoulos

Brief Bioinform. 2022 Sep; 23(5): bbac349. Published online 2022 Aug 30. doi: 10.1093/bib/bbac349

PMCID:: PMC9487589

Abstract Article PDF–1.0M

Select item 563877310.

Generation, Diversity Determination, and Application to Antibody Selection of a Human Naïve Fab Library

Sangkyu Kim, Insoo Park, Seung Gu Park, Seulki Cho, Jin Hong Kim, Nagesh S. Ipper, Sun Shim Choi, Eung Suk Lee, Hyo Jeong Hong

Mol Cells. 2017 Sep 30; 40(9): 655–666. Published online 2017 Sep 20. doi: 10.14348/molcells.2017.0106

PMCID:: PMC5638773

Abstract Article PDF–2.0M

Select item 614671211.

Structural Comparison of Human Anti-HIV-1 gp120 V3 Monoclonal Antibodies of the Same Gene Usage Induced by Vaccination and Chronic Infection

Kun-Wei Chan, Ruimin Pan, Matthew Costa, Miroslaw K. Gorny, Shixia Wang, Shan Lu, Xiang-Peng Kong

J Virol. 2018 Sep 15; 92(18): e00641-18. Prepublished online 2018 Jul 11. Published online 2018 Aug 29. doi: 10.1128/JVI.00641-18

PMCID:: PMC6146712

Abstract Article PDF–3.0M

Select item 621019112.

Identification of a novel broadly HIV-1-neutralizing antibody from a CRF01_AE-infected Chinese donor

Bin Ju, Dan Li, Li Ren, Jiali Hou, Yanling Hao, Hua Liang, Shuo Wang, Jiang Zhu, Min Wei, Yiming Shao

Emerg Microbes Infect. 2018; 7: 174. Published online 2018 Nov 1. doi: 10.1038/s41426-018-0175-1

PMCID:: PMC6210191

Abstract Article PDF–2.4M

Select item 653740213.

Capturing the differences between humoral immunity in the normal and tumor environments from repertoire-seq of B-cell receptors using supervised machine learning

Hiroki Konishi, Daisuke Komura, Hiroto Katoh, Shinichiro Atsumi, Hirotomo Koda, Asami Yamamoto, Yasuyuki Seto, Masashi Fukayama, Rui Yamaguchi, Seiya Imoto, Shumpei Ishikawa

BMC Bioinformatics. 2019; 20: 267. Published online 2019 May 28. doi: 10.1186/s12859-019-2853-y

PMCID:: PMC6537402

Abstract Article PDF–2.4M

Select item 872736514.

Dual UMIs and Dual Barcodes With Minimal PCR Amplification Removes Artifacts and Acquires Accurate Antibody Repertoire

Qilong Wang, Huikun Zeng, Yan Zhu, Minhui Wang, Yanfang Zhang, Xiujia Yang, Haipei Tang, Hongliang Li, Yuan Chen, Cuiyu Ma, Chunhong Lan, Bin Liu, Wei Yang, Xueqing Yu, Zhenhai Zhang

Front Immunol. 2021; 12: 778298. Published online 2021 Dec 22. doi: 10.3389/fimmu.2021.778298

PMCID:: PMC8727365

Abstract Article PDF–7.1M

Select item 555905415.

Sequence intrinsic somatic mutation mechanisms contribute to affinity maturation of VRC01-class HIV-1 broadly neutralizing antibodies

Joyce K. Hwang, Chong Wang, Zhou Du, Robin M. Meyers, Thomas B. Kepler, Donna Neuberg, Peter D. Kwong, John R. Mascola, M. Gordon Joyce, Mattia Bonsignori, Barton F. Haynes, Leng-Siew Yeap, Frederick W. Alt

Proc Natl Acad Sci U S A. 2017 Aug 8; 114(32): 8614–8619. Published online 2017 Jul 26. doi: 10.1073/pnas.1709203114

PMCID:: PMC5559054

Abstract Article PDF–1.3M

Select item 734724116.

Somatic hypermutation analysis for improved identification of B cell clonal families from next-generation sequencing data

Nima Nouri, Steven H. Kleinstein

PLoS Comput Biol. 2020 Jun; 16(6): e1007977. Published online 2020 Jun 23. doi: 10.1371/journal.pcbi.1007977

PMCID:: PMC7347241

Abstract Article PDF–2.2M

Select item 858438117.

A Small Step, a Giant Leap: Somatic Hypermutation of a Single Amino Acid Leads to Anti-La Autoreactivity

Tabea Bartsch, Claudia Arndt, Liliana R. Loureiro, Alexandra Kegler, Edinson Puentes-Cala, Javier Andrés Soto, Biji T. Kurien, Anja Feldmann, Nicole Berndt, Michael P. Bachmann

Int J Mol Sci. 2021 Nov; 22(21): 12046. Published online 2021 Nov 7. doi: 10.3390/ijms222112046

PMCID:: PMC8584381

Abstract Article PDF–2.1M

Select item 741007418.

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Marcel Kuhny, Lisa R. Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K. Dinesh, Salomé Glauzy, Asbjorg Stray-Pedersen, Ashley E. Pezzi, I. Celine Hanson, Alexander Vargas-Hernandez, Mina LuQuing Xu, Zeynep H. Coban-Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Ivan K. Chinn, David G. Schatz, Jordan S. Orange, Eric Meffre

J Clin Invest. 2020 Aug 3; 130(8): 4411–4422. Published online 2020 Jul 20. doi: 10.1172/JCI131297

PMCID:: PMC7410074

Abstract Article PDF–2.4M

Select item 857639919.

Novel Allele Detection Tool Benchmark and Application With Antibody Repertoire Sequencing Dataset

Xiujia Yang, Yan Zhu, Sen Chen, Huikun Zeng, Junjie Guan, Qilong Wang, Chunhong Lan, Deqiang Sun, Xueqing Yu, Zhenhai Zhang

Front Immunol. 2021; 12: 739179. Published online 2021 Oct 26. doi: 10.3389/fimmu.2021.739179

PMCID:: PMC8576399

Abstract Article PDF–94M

Select item 843898820.

PACS1-Neurodevelopmental disorder: clinical features and trial readiness

Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean-Dominique Vassalli, Anne T. Berg

Orphanet J Rare Dis. 2021; 16: 386. Published online 2021 Sep 13. doi: 10.1186/s13023-021-02001-1

PMCID:: PMC8438988

Abstract Article PDF–1.1M

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