Article
Biochemistry & Molecular Biology
Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin, RenalTube
Summary: Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption, leading to low urate levels and increased urate excretion. Mutations in the SLC22A12 and SLC2A9 genes are responsible for RHUC types 1 and 2, respectively. This study identified mutations in these genes in 21 new cases of RHUC and confirmed a founder effect for the SLC2A9 variant c.374C>T.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Blanka Stiburkova, Jana Bohata, Katerina Pavelcova, Velibor Tasic, Dijana Plaseska-Karanfilska, Sung-Kweon Cho, Ludmila Potocnakova, Jana Saligova
Summary: Renal hypouricemia (RHUC) is a rare inherited disease caused by dysfunctional variants in URAT1 and GLUT9 genes. Patients with RHUC exhibit low serum uric acid concentration, high uric acid excretion, and symptoms such as urolithiasis. A study identified common dysfunctional URAT1 allelic variants in the Roma population, suggesting that the disease is underdiagnosed.
Article
Biochemistry & Molecular Biology
Yusuke Kawamura, Akiyoshi Nakayama, Seiko Shimizu, Yu Toyoda, Yuichiro Nishida, Asahi Hishida, Sakurako Katsuura-Kamano, Kenichi Shibuya, Takashi Tamura, Makoto Kawaguchi, Satoko Suzuki, Satoko Iwasawa, Hiroshi Nakashima, Rie Ibusuki, Hirokazu Uemura, Megumi Hara, Kenji Takeuchi, Tappei Takada, Masashi Tsunoda, Kokichi Arisawa, Toshiro Takezaki, Keitaro Tanaka, Kimiyoshi Ichida, Kenji Wakai, Nariyoshi Shinomiya, Hirotaka Matsuo
Summary: This study revealed a low frequency of hypouricemia individuals in a Japanese health-examination population, but a high frequency of those carrying nonfunctional variants of URAT1. The nonfunctional variants significantly increased FEUA and decreased SUA levels, aiding in predicting the number of causative genes for RHUC.
Article
Genetics & Heredity
Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G. Gleeson, Sadaf Naz, Ashleigh Schaffer
Summary: Intellectual disability syndromes (IDSs) affect up to 3% of the world population, and a novel IDS segregating in five unrelated consanguineous families was clinically and genetically characterised in this study. The patients exhibited common clinical features including moderate-to-severe intellectual disability, corpus callosum agenesis, mild ventriculomegaly, simplified gyral pattern, cerebral atrophy, delayed motor and verbal milestones, and hypotonia. Four novel homozygous variants in TTC5 were identified, with one founder variant in Egypt. Missense variants disrupt highly conserved residues required for p300 interaction, while nonsense variants are predicted to decrease TTC5 expression.
JOURNAL OF MEDICAL GENETICS
(2021)
Review
Biochemistry & Molecular Biology
Masayuki Hakoda, Kimiyoshi Ichida
Summary: A genetic defect in URAT1 is the main cause of renal hypouricemia. The prevalence of mutant URAT1 alleles is around 0.1% in Japan and 3% in the general population. Exercise-induced acute kidney injury is more common in individuals with homozygous/compound heterozygous URAT1 mutations.
Article
Genetics & Heredity
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A. Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G. Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancie, Patrick Calvas, Jean-Michel Rozet, Arif O. Khan, Fadi F. Hamdan, Robyn Jamieson, Fowzan S. Alkuraya, Jacques L. Michaud, Nicolas Chassaing
Summary: This study identifies the role of WNT7B gene in the development of lung hypoplasia associated with PDAC syndrome, providing evidence for the involvement of the WNT-beta-catenin pathway in human lung, tracheal, ocular, cardiac, and renal development.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Microbiology
Nupur Biswas, Priyanka Mallick, Sujay Krishna Maity, Debaleena Bhowmik, Arpita Ghosh Mitra, Soumen Saha, Aviral Roy, Partha Chakrabarti, Sandip Paul, Saikat Chakrabarti
Summary: Identifying the genomic diversity and phylodynamic profiles of prevalent SARS-CoV-2 variants is crucial in understanding their evolution and spread. Genomic sequencing and analysis of variants collected in Kolkata, West Bengal, India revealed clade dynamics and potential associations between specific mutations and infection outcomes in Indian patients. Frequent mutations and co-mutations observed within major clades over time suggest the emergence of new mutations in the viral population.
FRONTIERS IN MICROBIOLOGY
(2021)
Article
Genetics & Heredity
Patrick Forny, Tanja Plessl, Caroline Frei, Celine Burer, D. Sean Froese, Matthias R. Baumgartner
Summary: Pathogenic variants in MMAB lead to cblB-type methylmalonic aciduria, with p.(Arg186Trp) and p.(Arg191Trp) being the most common. The propionate incorporation ratio in fibroblasts is associated with clinical cobalamin responsiveness and disease onset time.
Article
Multidisciplinary Sciences
Yin Luo, Miaomiao Li, Ding Xu
Summary: A human mutation of OPG associated with familial forms of osteoarthritis was identified, known as OPG(+19), which forms higher-order oligomers but functions equivalently as wildtype OPG in cell surface heparan sulfate binding, inhibition of osteoclastogenesis, and chondrocytes apoptosis.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Mark Gilchrist, Francesco Casanova, Jess S. Tyrrell, Stuart Cannon, Andrew R. Wood, Nicole Fife, Katherine Young, Richard A. Oram, Michael N. Weedon
Summary: By studying the data from UK Biobank, we found that the prevalence of Fabry disease-causing variants in an unselected population is higher than previously reported, particularly for late-onset cases, suggesting that the prevalence of late-onset Fabry disease may exceed current estimates.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biotechnology & Applied Microbiology
Syeda Iqra Hussain, Nazif Muhammad, Niamatullah Khan, Mobeen Khan, Fardous Fardous, Raheel Tahir, Muhammad Yasin, Sher Alam Khan, Shamim Saleha, Noor Muhammad, Naveed Wasif, Saadullah Khan
Summary: In this study, disease-causing variants related to intellectual disability were identified in two families through exome sequencing. One family had a variant in the CREBBP gene, while the other family had a variant in the TANGO2 gene. These findings contribute to our understanding of these disorders. Further research is needed to determine the genotype-phenotype associations.
JOURNAL OF GENE MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Nicolas M. Suarez, Shifa Jebari-Benslaiman, Roberto Jimenez-Monzon, Asier Benito-Vicente, Yeray Brito-Casillas, Laida Garces, Ana M. Gonzalez-Lleo, Antonio Tugores, Mauro Boronat, Cesar Martin, Ana M. Wagner, Rosa M. Sanchez-Hernandez
Summary: The p.(Tyr400_Phe402del) mutation in the LDL receptor (LDLR) gene is the most common cause of familial hypercholesterolaemia (FH) in Gran Canaria. The age and origin of this prevalent founder mutation were determined, and its functional consequences were explored. Haplotype analysis revealed that the mutation originated from a common ancestral haplotype approximately 387 (110-1572) years ago, after the Spanish colonization of the Canary Islands.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Kari A. Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber, Adnan Alsadah, Derek E. Neilson, Karin Naess, Anna Wedell, Anna Wredenberg, Arthur Sorlin, Emma McCann, George J. Burghel, Beatriz Menendez, George E. Hoganson, Lorenzo D. Botto, Francis M. Filloux, Angel Aledo-Serrano, Antonio Gil-Nagel, Katrina Tatton-Brown, Nienke E. Verbeek, Bert van der Zwaag, Kyrieckos A. Aleck, Andrew C. Fazenbaker, Jorune Balciuniene, Holly A. Dubbs, Eric D. Marsh, Kathryn Garber, Jakob Ek, Morten Duno, Christina E. Hoei-Hansen, Matthew A. Deardorff, Gordana Raca, Catherine Quindipan, Michele Van Hirtum-Das, Jeroen Breckpot, Trine Bjorg Hammer, Rikke S. Moller, Andrea Whitney, Andrew G. L. Douglas, Mira Kharbanda, Nicola Brunetti-Pierri, Manuela Morleo, Vincenzo Nigro, Halie J. May, James X. Tao, Emanuela Argilli, Elliot H. Sherr, William B. Dobyns, Richard A. Baines, Jim Warwicker, J. Alex Parker, Siddharth Banka, Philippe M. Campeau, Andrew Escayg
Summary: This study identifies ATP6V0C as an important disease gene associated with neurodevelopmental abnormalities. The mutations in ATP6V0C affect the activity of vacuolar H+-ATPase and lead to decreased cell growth, motor dysfunction, and reduced lifespan.
Article
Biochemistry & Molecular Biology
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Summary: Mutations in the human desmin gene can cause a range of diseases, including cardiomyopathies and myopathies. Autosomal dominant desminopathies primarily manifest as cardiac conduction disorders, arrhythmias, and cardiomyopathies, while the recessive forms are rare and exhibit variable phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Xiaopeng Ma, Yaping Wang, Peng Wu, Meiyun Kang, Yue Hong, Yao Xue, Chuqin Chen, Huimin Li, Yongjun Fang
Summary: This case report highlights a rare combination of WHIM syndrome and Kawasaki disease, shedding light on the genetic variations and clinical manifestations of this condition. Genetic testing should be conducted when there is unexplained persistent neutropenia and low immunoglobulin, particularly in individuals with a family history of neutropenia.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Katerina Pavelcova, Petra Hanova, Hana Ciferska, Lenka Hasikova, Blanka Stiburkova
Summary: The study revealed the presence of TPMT gene mutations in Czech patients with rheumatic diseases, highlighting the importance of testing for these mutations before administering AZA therapy. Patients experiencing adverse effects while on AZA treatment should undergo TPMT genotype and enzyme activity testing.
JCR-JOURNAL OF CLINICAL RHEUMATOLOGY
(2022)
Article
Clinical Neurology
Jitka Majovska, Anita Hennig, Igor Nestrasil, Susanne A. Schneider, Helena Jahnova, Manuela Vaneckova, Martin Magner, Petr Dusek
Summary: Late-onset Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment. On brain MRI, pontocerebellar atrophy is a constant finding in LOTS patients. These characteristic clinical and MRI findings can help in the differential diagnosis of adult-onset cerebellar ataxias.
NEUROLOGICAL SCIENCES
(2022)
Article
Genetics & Heredity
Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
Summary: This study analyzed clinical features of 203 NPC patients from six European countries based on data from the International Niemann-Pick Disease Registry. The study found that the age distribution of the disease was relatively equal and neurological symptoms such as ataxia, dysphagia, and dysarthria were frequently observed in all age categories. The study also mentioned a composite disability scale used to evaluate the disability level of patients.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Medicine, Research & Experimental
Marketa Vegrichtova, Michaela Hajkova, Bianka Porubska, Daniel Vasek, Vladimir Krylov, Tereza Tlapakova, Magdalena Krulova
Summary: This study demonstrated the ability of Sertoli cells to migrate and modulate the immune response in a phylogenetically distant host. It was found that Sertoli cells induce the expression of molecules associated with immunosuppression, such as IL-10 and PD-1 ligands.
XENOTRANSPLANTATION
(2022)
Article
Cell Biology
Jiri Vavra, Andrea Mancikova, Katerina Pavelcova, Lenka Hasikova, Jana Bohata, Blanka Stiburkova
Summary: This study identified genetic variants associated with primary hyperuricemia and gout, and found that one of the variants significantly reduces uric acid transport.
Meeting Abstract
Rheumatology
K. Pavelcova, B. Stiburkova, V. Balajkova, M. Belickova, C. Salek, M. Vostry, H. Mann, J. Vencovsky
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Biochemistry & Molecular Biology
Daisuke Miyamoto, Nana Sato, Koji Nagata, Yukinao Sakai, Hitoshi Sugihara, Yuki Ohashi, Blanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, Ken Okamoto
Summary: Renal hypouricemia can cause exercise-induced acute kidney injury, possibly due to the loss of hypoxanthine leading to reduced ATP in the renal tubules. This mechanism may not be related to oxidative stress.
Article
Rheumatology
Nicholas A. Sumpter, Riku Takei, Murray Cadzow, Ruth K. G. Topless, Amanda J. Phipps-Green, Rinki Murphy, Janak de Zoysa, Huti Watson, Muhammad Qasim, Alexa S. Lupi, Abhishek Abhishek, Mariano Andres, Tania O. Crisan, Michael Doherty, Lennart Jacobsson, Matthijs Janssen, Tim L. Jansen, Leo A. B. Joosten, Meliha Kapetanovic, Frederic Liote, Hirotaka Matsuo, Geraldine M. McCarthy, Fernando Perez-Ruiz, Philip Riches, Pascal Richette, Edward Roddy, Blanka Stiburkova, Alexander So, Anne-Kathrin Tausche, Rosa J. Torres, Till Uhlig, Tanya J. Major, Lisa K. Stamp, Nicola Dalbeth, Hyon K. Choi, Ana I. Vazquez, Megan P. Leask, Richard J. Reynolds, Tony R. Merriman
Summary: This study investigates the association between a gout polygenic risk score (PRS) and age at gout onset and tophaceous disease. The results show that the PRS is associated with earlier age at gout onset and tophaceous disease in male gout patients, but not in female patients.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Genetics & Heredity
Martin Knytl, Nicola R. Fornaini, Barbora Bergelov, Vaclav Gvozdik, Halina Cernohorska, Svatava Kubickova, Eric B. Fokam, Ben J. Evans, Vladimir Krylov
Summary: In this study, cytogenetic and molecular FISH techniques were used to investigate the chromosome morphology and rearrangements in an allotetraploid species of the sister subgenus Silurana. The results showed that the subgenomes of this species have distinctive characteristics, with one subgenome being more conserved and resembling a closely related diploid species, while the other subgenome evolves more rapidly and exhibits pronounced changes in chromosome structure.
Article
Biochemistry & Molecular Biology
Viktor Kozich, Bernd C. Schwahn, Jitka Sokolova, Michaela Krizkova, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomas Krizek, Tereza Vaculikova-Fantlova, Blanka Stiburkova, Philippa Mills, Peter Clayton, Kristyna Barvikova, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Angeles Garcia-Cazorla, Tobias B. Haack, Tomas Honzik, Pavel Jesina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, Rene Santer, Guenter Schwarz, Peter Nagy
Summary: Regulation of H2S homeostasis in humans is not well understood. By studying patients with genetic defects, the importance of certain enzymes in H2S synthesis and catabolism was assessed. The findings suggest the presence of control and compensatory mechanisms in the maintenance of H2S homeostasis.
Article
Genetics & Heredity
Yu Toyoda, Sung Kweon Cho, Velibor Tasic, Katerina Pavelcova, Jana Bohata, Hiroshi Suzuki, Victor A. David, Jaeho Yoon, Anna Pallaiova, Jana Saligova, Darryl Nousome, Raul Cachau, Cheryl A. Winkler, Tappei Takada, Blanka Stiburkova
Summary: Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low serum urate and overexcretion of urate in the kidney. In this study, a familial case of RHUC type 2 was described, and an intronic GLUT9 variant, c.1419+1G > A, was identified as the causal mutation that resulted in a functionally-null variant. This finding enhances our understanding of RHUC and the importance of GLUT9 in its pathophysiology.
FRONTIERS IN GENETICS
(2023)
Article
Rheumatology
Blanka Stiburkova, Katerina Pavelcova, Monika Belickova, Samuel J. Magaziner, Jason C. Collins, Achim Werner, David B. Beck, Veronika Balajkova, Cyril Salek, Martin Vostry, Herman Mann, Jiri Vencovsky
Summary: This study reports a case of a European ancestry patient with clinical manifestations of VEXAS syndrome associated with a newly identified dysfunctional UBA-1 enzyme variant. Due to the patient's insufficient response to various immunosuppressive treatments, allogeneic hematopoietic stem cell transplantation was performed, which resulted in significant improvement of clinical and laboratory manifestations of the disease.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Ecology
Nicola R. Fornaini, Barbora Bergelova, Vaclav Gvozdik, Halina Cernohorska, Vladimir Krylov, Svatava Kubickova, Eric B. Fokam, Gabriel Badjedjea, Ben J. Evans, Martin Knytl
Summary: Using fluorescence in situ hybridization and genomic data, we mapped repetitive elements in six species of African clawed frogs and found that polyploidization and divergence play important roles in the evolution of repetitive elements. We also observed conserved loci number and position in one of the subgenus species, while the number of signals varied in other species derived from different polyploidization events.
EUROPEAN JOURNAL OF WILDLIFE RESEARCH
(2023)
Meeting Abstract
Rheumatology
Tony Merriman, Hirotaka Matsuo, Riku Takei, Megan Leask, Ruth Topless, Yuya Shirai, Zhiqiang Li, Murray Cadzow, Richard Reynolds, Kenneth Saag, Tayaza Fadason, Justin O'Sullivan, Nicola Dalbeth, Lisa Stamp, Abhishek Abhishek, Michael Doherty, Edward Roddy, Lennart Jacobsson, Meliha Kapetanovic, Mariano Andres, Fernando Perez-Ruiz, Rosa Torres Jimenez, Timothy Radstake, Timothy Jansen, Matthijs Janssen, Leo Joosten, Tania Octavia Crisan, Tom Huizinga, Frederic Liote, Pascal Richette, Thomas Bardin, Tristan Pascart, Geraldine McCarthy, Blanka Stiburkova, Anne Tausche, Till Uhlig, Veronique Vitart, Philip Riches, Stuart Ralston, Thomas MacDonald, Akiyoshi Nakayama, Masahiro Nakatochi, Kimiyoshi Ichida, Tappei Takada, Chaeyoung Lee, Matthew Brown, Philip Robinson, Catherine Hill, Hyon Choi, Nicholas Sumpter, Marilyn Merriman, Amanda Phipps-Green, Wenhua Wei, Sally McCormick, Olle Melander, Rene Toes, Hang-Korng Ea, Fina Kurreeman, Laura Helbert, Thibaud Boutin, Nariyoshi Shinomiya, Linda Bradbury, Russell Buchanan, Susan Lester, Malcolm Smith, Maureen Rischmueller, Eli Stahl, Jeff Miner, Daniel Solomon, Jing Cui, Kathleen Giacomini, Deanna Brackman, Eric Jorgenson, Suyash Shringapure, Alexander So, Yukinori Okada, Changgui Li, Yongyong Shi, Tanya Major
ARTHRITIS & RHEUMATOLOGY
(2022)
Meeting Abstract
Rheumatology
Blanka Stiburkova, Katerina Pavelcova, Jana Bohata, Karel Pavelka, Lenka Hasikova, Jakub Zavada, Ales Kvasnicka, Dana Dobesova, David Friedecky
ARTHRITIS & RHEUMATOLOGY
(2022)