Review
Medicine, Research & Experimental
Hamidreza Ebrahimiyan, Shayan Mostafaei, Saeed Aslani, Seyedeh Tahereh Faezi, Elham Farhadi, Ahmadreza Jamshidi, Mahdi Mahmoudi
Summary: In this study, a meta-analysis was performed to investigate the association between ITGAM gene rs1143679 SNP and MBL gene rs1800451 SNP with SLE risk. The results showed a significant positive association between rs1143679 and SLE risk, while rs1800451 was significantly associated with decreased susceptibility to SLE.
CLINICAL AND EXPERIMENTAL MEDICINE
(2022)
Article
Immunology
Morgane Humbel, Florence Bellanger, Alice Horisberger, Madeleine Suffiotti, Natalia Fluder, Mariko Makhmutova, Amandine Mathias, Renaud Du Pasquier, Craig Fenwick, Camillo Ribi, Denis Comte
Summary: This study identified an immune signature for systemic lupus erythematosus (SLE) based on the expression of signaling lymphocytic activation molecule family (SLAMF) receptors on peripheral blood mononuclear cells (PBMC). The frequency of SLAMF1+ B cells, SLAMF4+ monocytes, and SLAMF4+ NK showed correlations with disease activity. Consensus clustering analysis also identified two cell clusters, SLESMB and SLEcTFH, which were significantly increased in SLE compared to controls.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Xianyong Yin, Kwangwoo Kim, Hiroyuki Suetsugu, So-Young Bang, Leilei Wen, Masaru Koido, Eunji Ha, Lu Liu, Yuma Sakamoto, Sungsin Jo, Rui-Xue Leng, Nao Otomo, Viktoryia Laurynenka, Young-Chang Kwon, Yujun Sheng, Nobuhiko Sugano, Mi Yeong Hwang, Weiran Li, Masaya Mukai, Kyungheon Yoon, Minglong Cai, Kazuyoshi Ishigaki, Won Tae Chung, He Huang, Daisuke Takahashi, Shin-Seok Lee, Mengwei Wang, Kohei Karino, Seung-Cheol Shim, Xiaodong Zheng, Tomoya Miyamura, Young Mo Kang, Dongqing Ye, Junichi Nakamura, Chang-Hee Suh, Yuanjia Tang, Goro Motomura, Yong-Beom Park, Huihua Ding, Takeshi Kuroda, Jung-Yoon Choe, Chengxu Li, Hiroaki Niiro, Youngho Park, Changbing Shen, Takeshi Miyamoto, Ga-Young Ahn, Wenmin Fei, Tsutomu Takeuchi, Jung-Min Shin, Keke Li, Yasushi Kawaguchi, Yeon-Kyung Lee, Yongfei Wang, Koichi Amano, Dae Jin Park, Wanling Yang, Yoshifumi Tada, Ken Yamaji, Masato Shimizu, Takashi Atsumi, Akari Suzuki, Takayuki Sumida, Yukinori Okada, Koichi Matsuda, Keitaro Matsuo, Yuta Kochi, Leah C. Kottyan, Matthew T. Weirauch, Sreeja Parameswaran, Shruti Eswar, Hanan Salim, Xiaoting Chen, Kazuhiko Yamamoto, John B. Harley, Koichiro Ohmura, Tae-Hwan Kim, Sen Yang, Takuaki Yamamoto, Bong-Jo Kim, Nan Shen, Shiro Ikegawa, Hye-Soon Lee, Xuejun Zhang, Chikashi Terao, Yong Cui, Sang-Cheol Bae
Summary: This study conducted the largest genome-wide meta-analysis for SLE in East Asian populations, identifying 46 novel loci and prioritizing putative causal variants using Bayesian statistical approach. The findings highlight the power of large-scale genetic discovery in shedding light on the genetic and biological understandings of SLE.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Rheumatology
May Yee Choi, Irene Chen, Ann Elaine Clarke, Marvin J. Fritzler, Katherine A. Buhler, Murray Urowitz, John Hanly, Yvan St-Pierre, Caroline Gordon, Sang-Cheol Bae, Juanita Romero-Diaz, Jorge Sanchez-Guerrero, Sasha Bernatsky, Daniel J. Wallace, David Alan Isenberg, Anisur Rahman, Joan T. Merrill, Paul R. Fortin, Dafna D. Gladman, Ian N. Bruce, Michelle Petri, Ellen M. Ginzler, Mary Anne Dooley, Rosalind Ramsey-Goldman, Susan Manzi, Andreas Jonsen, Graciela S. Alarcon, Ronald F. van Vollenhoven, Cynthia Aranow, Meggan Mackay, Guillermo Ruiz-Irastorza, Sam Lim, Murat Inanc, Kenneth Kalunian, Soren Jacobsen, Christine Peschken, Diane L. Kamen, Anca Askanase, Jill P. Buyon, David Sontag, Karen H. Costenbader
Summary: A novel longitudinal clustering technique was used to analyze comprehensive autoantibody data from a large, well-characterised, multinational inception SLE cohort, in order to determine predictive profiles of clinical outcomes.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Oncology
Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Achatz, Christine Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul Auer, Mollie Barnard, Birgitte Bertelsen, Biobank Japan, Marinus J. Blok, Nicholas Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jian Bang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-Gonzalez, Consortium Czecanca, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux, Susan Domchek, Anna Efremidis, Christoph Engel, Corinna Ernst, D. Gareth R. Evans, Lidia Feliubadalo, Florentia Fostira, Olivia Fuentes-Rios, Encarna B. Gomez-Garcia, Sara Gonzalez, Christopher Haiman, Thomas van Overeem Hansen, Jan Hauke, James Hodge, Chunling Hu, Hongyan Huang, Nur Diana Binte Ishak, Yusuke Iwasaki, Irene Konstantopoulou, Peter Kraft, James Lacey, Conxi Lazaro, Na Li, Weng Khong Lim, Sara Lindstrom, Adriana Lori, Elana Martinez, Alexandra Martins, Koichi Matsuda, Giuseppe Matullo, Simone McInerny, Kyriaki Michailidou, Marco Montagna, Alvaro N. A. Monteiro, Luigi Mori, Katherine Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Janet E. Olson, Julie Palmer, Barbara Pasini, Alpa Patel, Maria Piane, Bruce Poppe, Paolo Radice, Alessandra Renieri, Nicoletta Resta, Marcy E. Richardson, Toon Rosseel, Kathryn J. Ruddy, Marta Santamarina, Elizabeth Santana Dos Santos, Lauren Teras, Amanda E. Toland, Amy Trentham-Dietz, Celine M. Vachon, Alexander E. Volk, Nana Weber-Lassalle, Jeffrey N. Weitzel, Lisa Wiesmuller, Stacey Winham, Siddhartha Yadav, Drakoulis Yannoukakos, Song Yao, Valentina Zampiga, Magnus Zethoven, Ze Wen Zhang, Tomas Zima, Amanda B. Spurdle, Vega Ana, Maria Rossing, Jesus Del Valle, Arcangela De Nicolo, Eric Hahnen, Kathleen B. M. Claes, Joanne Ngeow, Yukihide Momozawa, Paul A. James, Fergus J. Couch, Libor Macurek, Zdenek Kleibl
Summary: This study determined the functional consequences of CHEK2 missense variants in patients with breast cancer. The study found that carriers of functionally impaired variants were associated with a moderate risk, while carriers of functionally wild-type/intermediate variants had no clinically relevant breast cancer risk.
CLINICAL CANCER RESEARCH
(2023)
Article
Genetics & Heredity
Satish Pasula, Jaanam Gopalakrishnan, Yao Fu, Kandice L. Tessneer, Mandi M. Wiley, Richard C. Pelikan, Jennifer A. Kelly, Patrick M. Gaffney
Summary: This study demonstrates the complex chromatin regulatory network at the TNFAIP3 locus and its role in autoimmune disease pathology. SNPs on this locus can lead to upregulation of certain genes while suppressing TNFAIP3 expression, highlighting the mechanistic potency of this locus in autoimmune diseases.
FRONTIERS IN GENETICS
(2022)
Article
Rheumatology
Lingxiao Xu, Jian Zhao, Qing Sun, Xue Xu, Lei Wang, Ting Liu, Yunjuan Wu, Jingfeng Zhu, Linyu Geng, Yun Deng, Alexander Awgulewitsch, Diane L. Kamen, Jim C. Oates, Prithvi Raj, Edward K. Wakeland, R. Hal Scofield, Joel M. Guthridge, Judith A. James, Bevra H. Hahn, Deborah K. McCurdy, Fang Wang, Miaojia Zhang, Wenfeng Tan, Gary S. Gilkeson, Betty P. Tsao
Summary: This research found two novel SAT1 LOF variants through whole exome sequencing in families with multiple siblings affected by systemic lupus erythematosus (SLE), demonstrating their association with SLE. The study highlights the pathogenic role of dysregulated polyamine catabolism in lupus.
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Cardiac & Cardiovascular Systems
Wei He, Jie Li, Pengyuan Zhang, Minjie Wan, Peihan Xie, Liuqin Liang, Donghong Liu
Summary: This study evaluated global myocardial work (MW) in systemic lupus erythematosus (SLE) patients with normal left ventricular ejection fraction (LVEF) using two-dimensional speckle-tracking imaging (2D-STI). The results showed that SLE patients had higher global wasted work (GWW) and lower global work efficiency (GWE) compared to healthy controls, indicating the potential use of these parameters for the early detection of subclinical left ventricular dysfunction.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Article
Genetics & Heredity
Matthieu Halfon, Li Zhang, Driss Ehirchiou, Vishnuprabu Durairaj Pandian, Suzan Dahdal, Uyen Huynh-Do, Andreas Pasch, Camillo Ribi, Nathalie Busso
Summary: The CD11B R77H gene variant is associated with increased serum calcification propensity and lower C3 levels in SLE patients, indicating an increased cardiovascular risk in homozygous individuals.
Article
Rheumatology
Quentin Moyon, Delphine Sterlin, Makoto Miyara, Francois Anna, Alexis Mathian, Raphael Lhote, Pascale Ghillani-Dalbin, Paul Breillat, Sasi Mudumba, Sophia de Alba, Fleur Cohen-aubart, Julien Haroche, Micheline Pha, Thi Huong Du Boutin, Hedi Chaieb, Pedro Macedo Flores, Pierre Charneau, Guy Gorochov, Zahir Amoura
Summary: This study evaluated disease activity and immune responses in SLE patients following BNT162b2 vaccination. MMF and MTX treatments were found to be associated with reduced antibody response, while anti-spike antibody response was positively correlated with baseline immunoglobulin levels, naive B cell frequencies, and SARS-CoV-2-specific T cell response.
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Review
Immunology
Paul Curtiss, Amanda M. Walker, Benjamin F. Chong
Summary: This study reviewed patient cohorts and populations to investigate the progression of cutaneous lupus to systemic lupus. The study found variations in the progression rates between adult and pediatric groups, which were attributed to differences in patient populations, study design, diagnostic criteria, and follow-up time. Risk factors associated with the development of systemic lupus included positive anti-nuclear antibodies, hematologic abnormalities, and a higher number of lupus classification criteria at baseline.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Ying Teng, Zi-Ye Yan, Lin-Lin Wang, Yu-Hua Wang, Ting-Yu Zhang, Zhen Li, Shuang Liu, Jing Cai, Yang-Fan Chen, Mu Li, Sheng-Xiu Liu, Zhou-Zhou Xu, Hai-Liang Huang, Fang Wang, Fa-Ming Pan, Hai-Feng Pan, Hong Su, Yan-Feng Zou
Summary: This study investigated the associations of mitochondrial DNA (mtDNA) genetic variants with SLE susceptibility, glucocorticoid efficacy, and prognosis. The researchers identified several mtDNA variants that were associated with SLE susceptibility, glucocorticoid efficacy, and relapse risk. They also observed interactions between mtDNA variants and environmental factors. These findings provide important information for understanding the occurrence and development of SLE.
Article
Rheumatology
Huai-Chia Chuang, Wei-Ting Hung, Yi-Ming Chen, Pu-Ming Hsu, Jeng-Hsien Yen, Joung-Liang Lan, Tse-Hua Tan
Summary: Multiple germline and somatic variants of the MAP4K3 (GLK) gene were found in patients with SLE, leading to increased GLK expression through mRNA or protein stability.
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Immunology
Julius Lindblom, Lorenzo Beretta, Maria Orietta Borghi, Marta E. Alarcon-Riquelme, Ioannis Parodis
Summary: The study identified CCL8, CXCL13, and IL-1RA as potential serum biomarkers for activity in SLE, correlating with SLE Disease Activity Index 2000 (SLEDAI-2K) scores. Autoantibodies showed similar occurrence across organ domains in SLE patients, with weak correlations to activity in different organ domains.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Oncology
Kaichi Kaneko, Hao Chen, Matthew Kaufman, Isaak Sverdlov, Emily M. Stein, Kyung-Hyun Park-Min
Summary: Osteonecrosis is a complex and devastating complication of systemic lupus erythematosus, with variable prevalence in SLE patients. The use of high-dose glucocorticoid therapy is strongly associated with the development of osteonecrosis in SLE patients, although the exact pathophysiology and risk factors for osteonecrosis in this population are not fully understood.
CLINICAL AND TRANSLATIONAL MEDICINE
(2021)
Article
Genetics & Heredity
Danny Laurent, Fiona Semple, Philip J. Starkey Lewis, Elaine Rose, Holly A. Black, Jennifer Coe, Stuart J. Forbes, Mark J. Arends, James W. Dear, Timothy J. Aitman
BMC MEDICAL GENOMICS
(2020)
Article
Cardiac & Cardiovascular Systems
Alexander J. Fletcher, Maaz B. J. Syed, Timothy J. Aitman, David E. Newby, Niki L. Walker
Article
Multidisciplinary Sciences
James E. D. Thaventhiran, Hana Lango Allen, Oliver S. Burren, William Rae, Daniel Greene, Emily Staples, Zinan Zhang, James H. R. Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J. Penkett, Jonathan Stephens, Sri V. V. Deevi, Alba Sanchis-Juan, Nicholas S. Gleadall, Moira J. Thomas, Ravishankar B. Sargur, Pavels Gordins, Helen E. Baxendale, Matthew Brown, Paul Tuijnenburg, Austen Worth, Steven Hanson, Rachel J. Linger, Matthew S. Buckland, Paula J. Rayner-Matthews, Kimberly C. Gilmour, Crina Samarghitean, Suranjith L. Seneviratne, David M. Sansom, Andy G. Lynch, Karyn Megy, Eva Ellinghaus, David Ellinghaus, Silje F. Jorgensen, Tom H. Karlsen, Kathleen E. Stirrups, Antony J. Cutler, Dinakantha S. Kumararatne, Anita Chandra, J. David M. Edgar, Archana Herwadkar, Nichola Cooper, Sofia Grigoriadou, Aarnoud P. Huissoon, Sarah Goddard, Stephen Jolles, Catharina Schuetz, Felix Boschann, Paul A. Lyons, Matthew E. Hurles, Sinisa Savic, Siobhan O. Burns, Taco W. Kuijpers, Ernest Turro, Willem H. Ouwehand, Adrian J. Thrasher, Kenneth G. C. Smith
Article
Multidisciplinary Sciences
Bianca Jupp, Silvia Pitzoi, Enrico Petretto, Adam C. Mar, Yolanda Pena Oliver, Emily R. Jordan, Stephanie Taylor, Santosh S. Atanur, Prashant K. Srivastava, Kathrin Saar, Norbert Hubner, Wolfgang H. Sommer, Oliver Staehlin, Rainer Spanagel, Emma S. Robinson, Gunter Schumann, Margarita Moreno, Barry J. Everitt, Trevor W. Robbins, Timothy J. Aitman, Jeffrey W. Dalley
SCIENTIFIC REPORTS
(2020)
Article
Multidisciplinary Sciences
Ernest Turro, William J. Astle, Karyn Megy, Stefan Graef, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David L. Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael A. Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew D. Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noemi B. A. Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Y. Y. Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R. Bentley, Nathalie Kingston, Neil Walker, John R. Bradley, Sofie Ashford, Christopher J. Penkett, Kathleen Freson, Kathleen E. Stirrups, F. Lucy Raymond, Willem H. Ouwehand
Article
Multidisciplinary Sciences
Katharina Dulias, M. George B. Foody, Pierre Justeau, Marina Silva, Rui Martiniano, Gonzalo Oteo-Garcia, Alessandro Fichera, Simao Rodrigues, Francesca Gandini, Alison Meynert, Kevin Donnelly, Timothy J. Aitman, Andrew Chamberlain, Olivia Lelong, George Kozikowski, Dominic Powlesland, Clive Waddington, Valeria Mattiangeli, Daniel G. Bradley, Jaroslaw Bryk, Pedro Soares, James F. Wilson, Graeme Wilson, Hazel Moore, Maria Pala, Ceiridwen J. Edwards, Martin B. Richards
Summary: During the Neolithic period, Orkney was a major cultural center with flourishing farming and long-range contacts. New genomic evidence shows significant inward migration during the Bronze Age, but most of the male lineages originated from the local Neolithic period. Meanwhile, there is evidence of continuity in the female line of descent from the Mesolithic period to the present day.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Oncology
Sophie J. Warlow, Martyna Adamowicz, John P. Thomson, Robert A. Wescott, Christelle Robert, Lara M. Carey, Helen Thain, Kate Cuschieri, Lucy Q. Li, Brendan Conn, Ashley Hay, Iain J. Nixon, Timothy J. Aitman
Summary: This study evaluated the utility of plasma cfDNA ddPCR as a method for characterizing and longitudinally monitoring OPSCC patients. The results showed high concordance between pre-treatment plasma cfDNA HPV analysis and tissue-based assays, and longitudinally monitoring post-treatment cfDNA-HPV was strongly associated with patient outcomes.
Article
Oncology
Maria Prendecki, Stephen P. McAdoo, Tabitha Turner-Stokes, Ana Garcia-Diaz, Isabel Orriss, Kevin J. Woollard, Jacques Behmoaras, H. Terence Cook, Robert Unwin, Charles D. Pusey, Timothy J. Aitman, Frederick W. K. Tam
Summary: P2RX7 is not involved in inflammation and autoimmunity in glomerulonephritis, and there is an alternative inflammasome pathway for IL-1β production in rat dendritic cells, independent of P2RX7.
JOURNAL OF PATHOLOGY
(2022)
Article
Multidisciplinary Sciences
Alex Cagan, Adrian Baez-Ortega, Natalia Brzozowska, Federico Abascal, Tim H. H. Coorens, Mathijs A. Sanders, Andrew R. J. Lawson, Luke M. R. Harvey, Shriram Bhosle, David Jones, Raul E. Alcantara, Timothy M. Butler, Yvette Hooks, Kirsty Roberts, Elizabeth Anderson, Sharna Lunn, Edmund Flach, Simon Spiro, Inez Januszczak, Ethan Wrigglesworth, Hannah Jenkins, Tilly Dallas, Nic Masters, Matthew W. Perkins, Robert Deaville, Megan Druce, Ruzhica Bogeska, Michael D. Milsom, Bjorn Neumann, Frank Gorman, Fernando Constantino-Casas, Laura Peachey, Diana Bochynska, Ewan St John Smith, Moritz Gerstung, Peter J. Campbell, Elizabeth P. Murchison, Michael R. Stratton, Inigo Martincorena
Summary: Through whole-genome sequencing of 208 intestinal crypts from 56 individuals, this study reveals that somatic mutation in mammals is dominated by endogenous mutational processes, and mutational signatures in different species show similarities to those in humans, though with variations in relative contribution. The study also finds a strong inverse relationship between somatic mutation rate and species lifespan, suggesting that somatic mutation rates are evolutionarily constrained and may contribute to aging.
Article
Oncology
Lucy Q. Li, Martyna Adamowicz, Robert A. Wescott, Sophie J. Warlow, John P. Thomson, Christelle Robert, Lara M. Carey, Helen Thain, Kate Cuschieri, Brendan Conn, Ashley Hay, Timothy J. Aitman, Iain J. Nixon
Summary: This study aimed to determine the potential of post-treatment HPV cell-free DNA (cfDNA) as a biomarker for salvage neck dissection in patients with oropharyngeal squamous cell carcinoma (OPSCC) showing a partial response in the neck on imaging. Results showed that the detection of HPV cfDNA had a high positive predictive value in identifying patients with positive disease on subsequent neck dissection. However, there were cases of regional disease recurrence in patients with undetectable HPV cfDNA, indicating the need for further validation and larger studies on the use of post-treatment HPV cfDNA in OPSCC management.
Article
Multidisciplinary Sciences
Peter H. Dixon, Adam P. Levine, Ines Cebola, Melanie M. Y. Chan, Aliya S. Amin, Anshul Aich, Monika Mozere, Hannah Maude, Alice L. Mitchell, Jun Zhang, Jenny Chambers, Argyro Syngelaki, Jennifer Donnelly, Sharon Cooley, Michael Geary, Kypros Nicolaides, Malin Thorsell, William M. Hague, Maria Cecilia Estiu, Hanns-Ulrich Marschall, Daniel P. Gale, Catherine Williamson
Summary: The study identified multiple genetic signals associated with intrahepatic cholestasis of pregnancy (ICP), shedding light on the disease which can lead to preterm birth and stillbirth. Common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements were pinpointed as contributing mechanisms to ICP susceptibility.
NATURE COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Lynne Hocking, Claire Andrews, Christine Armstrong, Morad Ansari, David Baty, Jonathan Berg, Therese Bradley, Caroline Clark, Austin Diamond, Jill Doherty, Anne Lampe, Ruth McGowan, David Moore, Dawn O'Sullivan, Andrew Purvis, Javier Santoyo-Lopez, Paul Westwood, Michael Abbott, Nicola J. Williams, Zosia Scottish Genomes Partnership, Timothy Aitman, Zosia Miedzybrodzka
Summary: Scottish NHS genetics centres investigated the diagnostic utility of the Genomics England 100,000 Genomes Project for rare, inherited conditions. Genome sequencing with gene panel filtering and reporting showed improved diagnostic yield compared to previous testing, but not compared to routine trio-exome sequence tests. Re-interpretation of genomic data using updated gene panels modestly increased diagnostic yield. Efficient methods for analyzing structural variation or decreased costs are needed to justify the additional expense of genome sequencing over exome sequencing.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Danielle Leighton, Morad Ansari, Judith Newton, David Parry, Elaine Cleary, Shuna Colville, Laura Stephenson, Juan Larraz, Micheala Johnson, Emily Beswick, Michael Wong, Jenna Gregory, Javier Carod Artal, Richard Davenport, Callum Duncan, Ian Morrison, Colin Smith, Robert Swingler, Ian Deary, Mary Porteous, Timothy Aitman, Siddharthan Chandran, George Gorrie, Suvankar Pal, Carolyn Lothian Birth Cohorts Grp, CARE-MND Consortium
Summary: This study investigated the phenotypes and genotypes of a cohort of long-surviving individuals with motor neuron disease (MND). The findings suggest that long survivors are characterized by younger age at onset, increased prevalence of primary lateral sclerosis (PLS), and longer diagnostic delay. Genetic analysis revealed potentially pathogenic variants in several MND-associated genes.
JOURNAL OF NEUROLOGY
(2023)
Article
Biology
Amy L. Roberts, Alessandro Morea, Ariella Amar, Antonino Zito, Julia S. El-Sayed Moustafa, Max Tomlinson, Ruth C. E. Bowyer, Xinyuan Zhang, Colette Christiansen, Ricardo Costeira, Claire J. Steves, Massimo Mangino, Jordana T. Bell, Chloe C. Y. Wong, Timothy J. Vyse, Kerrin S. Small, Carlos Isales
Summary: Our study demonstrates that age acquired XCI-skew captures changes to the haematopoietic stem cell population and has clinical potential as a unique biomarker of chronic disease risk.
Article
Genetics & Heredity
Antonino Zito, Amy L. Roberts, Alessia Visconti, Niccolo' Rossi, Rosa Andres-Ejarque, Stefano Nardone, Julia El-Sayed S. Moustafa, Mario Falchi, Kerrin S. Small
Summary: X-chromosome inactivation (XCI) is a process that balances the dosage of X-chromosomes in mammalian males and females. This study reveals the occurrence and variability of XCI escape across tissues and individuals, and highlights the potential impact of escape on disease risk and phenotype differences.