Article
Biochemistry & Molecular Biology
Ji Hoon Han, Gavin Ryan, Alyson Guy, Lu Liu, Mathieu Quinodoz, Ingrid Helbling, Joey E. Lai-Cheong, Julian Barwell, Marc Folcher, John A. McGrath, Celia Moss, Carlo Rivolta
Summary: The study identified LIPHAK as a previously unrecognized ribosomopathy, where variants in the LTV1 gene result in abnormal splicing and premature termination of the protein it encodes.
HUMAN MOLECULAR GENETICS
(2022)
Article
Endocrinology & Metabolism
Feng Zhu, Min Zhou, Xiuling Deng, Yujuan Li, Jing Xiong
Summary: A novel mutation in the NR0B1 gene was identified in a male patient with adrenal hypoplasia congenita and pubertal development failure. The mutation resulted in clinical symptoms and metabolic abnormalities, expanding the understanding of clinical features of AHC and the mutation profile of the NR0B1 gene.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Oguzhan Begik, Morghan C. Lucas, Leszek P. Pryszcz, Jose Miguel Ramirez, Rebeca Medina, Ivan Milenkovic, Sonia Cruciani, Huanle Liu, Helaine Graziele Santos Vieira, Aldema Sas-Chen, John S. Mattick, Schraga Schwartz, Eva Maria Novoa
Summary: This study demonstrated the potential of nanopore RNA sequencing for detecting and identifying various RNA modifications, including pseudouridine and 2'-O-methylation. By focusing on pseudouridine modification sites, the researchers revealed the distribution and dynamics of these modifications in cellular RNAs. The development of a software tool to estimate modification stoichiometries at each site provides a valuable tool for further research on RNA modifications.
NATURE BIOTECHNOLOGY
(2021)
Article
Hematology
Neelam Giri, Blanche P. Alter, Sharon A. Savage, Pamela Stratton
Summary: Research shows that women with dyskeratosis congenita (DC) and related telomere biology disorders (TBD) may experience adverse impacts on reproductive health, leading to frequent gynaecological problems and pregnancy complications. Women with TBDs would benefit from multidisciplinary, coordinated care by haematology, gynaecology, and maternal-fetal medicine specialists.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Endocrinology & Metabolism
Z. Belaya, O. Golounina, A. Nikitin, N. Tarbaeva, E. Pigarova, E. Mamedova, M. Vorontsova, I. Shafieva, I. Demina, W. Van Hul
Summary: A young male patient with clinical signs of dyskeratosis congenita presented with multiple bilateral low-traumatic hip fractures. Whole exome sequencing revealed a previously unreported mutation in the PARN gene. Treatment with zoledronic acid was effective at preventing further fractures.
OSTEOPOROSIS INTERNATIONAL
(2021)
Article
Medicine, General & Internal
Mone't B. Thompson, Daniel Muldoon, Kelvin C. de Andrade, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Robert D. Shamburek, Payal P. Khincha
Summary: The study found that oral androgen therapy in DC patients altered lipid and lipoprotein levels, potentially increasing the risk of atherogenic cardiovascular disease. Individuals on androgens for DC-related BMF should undergo cardiovascular disease monitoring.
Article
Biochemistry & Molecular Biology
Sophie Sleiman, Aren E. Marshall, Xiaomin Dong, Aziz Mhanni, Ismael Alidou-D'Anjou, Patrick Frosk, Samantha E. Marin, Zornitza Stark, Marc R. Del Bigio, Arran McBride, Simon Sadedin, Lyndon Gallacher, John Christodoulou, Kym M. Boycott, Francois Dragon, Kristin D. Kernohan
Summary: SHQ1 has been identified as associated with neurological diseases, including early-onset dystonia, and this study begins to uncover the molecular etiology of this novel condition.
HUMAN MOLECULAR GENETICS
(2022)
Article
Behavioral Sciences
Ming-Jie Zhang, Ya-Xian Cao, Hui-Ying Wu, He-Hong Li
Summary: Hoyeraal-Hreidarsson syndrome is a severe variant of dyskeratosis congenita, with clinical features such as delayed development, skin pigmentation, nail/toenail dystrophy, thrombocytopenia, and anemia. CNS imaging findings show cerebellar hypoplasia, delayed myelination, hydrocephalus, brain atrophy, and calcification. Gene mutations in DKC1 and TINF2 can lead to the phenotypes of Hoyeraal-Hreidarsson syndrome, making cerebellar hypoplasia a key diagnostic feature.
BRAIN AND BEHAVIOR
(2021)
Article
Biochemistry & Molecular Biology
Jian Qin, Alexandre Garus, Chantal Autexier
Summary: This study reveals that mutations in the C-terminal extension (CTE) of dyskerin impair its interaction with hTR, leading to X-linked dyskeratosis congenita (X-DC) and related telomere syndromes. These mutations result in reduced binding to SHQ1 and defective binding to hTR. Furthermore, deletion of the CTE further reduces binding to hTR and disrupts the localization and interaction of dyskerin with other molecules.
HUMAN MOLECULAR GENETICS
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Gamze Durhan, Selin Ardali Duzgun, Meltem Gulsun Akpinar, Figen Demirkazik, Orhan Macit Ariyurek
Summary: Congenital lung diseases in adults are rare and can present with varied symptoms or be detected incidentally. Familiarity with imaging features of different types of congenital lung diseases is crucial for accurate diagnosis and management. These diseases are classified into bronchopulmonary anomalies, vascular anomalies, and combined anomalies, with advanced imaging techniques like CT, MR angiography, and novel applications such as 3D reconstruction aiding in detailed visualization and assessment of these anomalies.
INSIGHTS INTO IMAGING
(2021)
Article
Pediatrics
Liqing Wang, Jianwei Li, Qiuhong Xiong, Yong-An Zhou, Ping Li, Changxin Wu
Summary: This study reports the first discovery of a DKC1 gene mutation in a Chinese family, which is associated with the phenotype of mucocutaneous triad. The findings broaden the understanding of disease variation, genotype-phenotype correlations, and facilitate clinical diagnosis of DC in China.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medical Laboratory Technology
Chia-Yin Chien, Kuo-Hsuan Chang, Chiung-Mei Chen
Summary: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene, leading to elevated VLCFA levels in plasma. Phenotypic expressions vary, with childhood cerebral form (CCALD) and adrenomyeloneuropathy (AMN) being common. Genetic analysis is reliable for diagnosis. A novel missense mutation was identified in a 46-year-old male patient and his family members, showing a rare demyelinating polyneuropathy finding in nerve conduction study.
CLINICA CHIMICA ACTA
(2021)
Review
Biochemistry & Molecular Biology
Patrycja Juchniewicz, Ewa Piotrowska, Anna Kloska, Magdalena Podlacha, Jagoda Mantej, Grzegorz Wegrzyn, Stefan Tukaj, Joanna Jakobkiewicz-Banecka
Summary: Advancements in genomic and metabolomic technologies are rapidly increasing our understanding of the molecular and biochemical causes of genetic disorders, with an emphasis on the varying phenotypes. Dosage compensation through lyonization helps balance gene expression on heteromorphic sex chromosomes, greatly impacting the manifestation of X-linked disorders in females. This review summarizes clinical and genetic findings in female carriers of pathogenic variants in selected X-linked genes that result in metabolic disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Dermatology
Chunyu Yuan, Dongmei Deng, Jianqiu Yang, Simeng Liu, Qihong Qian, Min Chen, Shengru Zhou, Yujiang Li, Min Li
Summary: The study identified novel and missense mutations in the DKC1 gene in three Chinese families with X-linked DC. These mutations locally changed the structure of dyskerin and were predicted to have deleterious and natural effects on its function, respectively. These findings improve our understanding of DC and broaden the mutation spectrum of the DKC1 gene.
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY
(2022)
Article
Pediatrics
Mosopefoluwa Lanlokun, Amanda Borden, Daime Nieves, Jolan E. Walter, Deborah Albright
Summary: Early evaluation for primary humoral immune deficiency in male patients under 12 months with neutropenia can help avoid unnecessary bone marrow biopsy in stable cases.
FRONTIERS IN PEDIATRICS
(2021)
Article
Hematology
Sally B. Killick, Nick Bown, Jamie Cavenagh, Inderjeet Dokal, Theodora Foukaneli, Anita Hill, Peter Hillmen, Robin Ireland, Austin Kulasekararaj, Ghulam Mufti, John A. Snowden, Sujith Samarasinghe, Anna Wood, Judith C. W. Marsh
BRITISH JOURNAL OF HAEMATOLOGY
(2016)
Letter
Hematology
Shirleny R. Cardoso, Alicia C. M. Ellison, Amanda J. Walne, David Cassiman, Manoj Raghavan, Bhuvan Kishore, Philip Ancliff, Carmen Rodriguez-Vigil, Bieke Dobbels, Ana Rio-Machin, Ahad F. H. Al Seraihi, Nikolas Pontikos, Hemanth Tummala, Tom Vulliamy, Inderjeet Dokal
Letter
Hematology
Shirleny R. Cardoso, Alicia C. M. Ellison, Amanda J. Walne, David Cassiman, Manoj Raghavan, Bhuvan Kishore, Philip Ancliff, Carmen Rodriguez-Vigil, Bieke Dobbels, Ana Rio-Machin, Ahad F. H. Al Seraihi, Nikolas Pontikos, Hemanth Tummala, Tom Vulliamy, Inderjeet Dokal
Letter
Hematology
Amanda Walne, Hemanth Tummala, Alicia Ellison, Shirleny Cardoso, Jasmin Sidhu, Gabriela Sciuccati, Tom Vulliamy, Inderjeet Dokal
Article
Oncology
Ahad F. Al Seraihi, Ana Rio-Machin, Kiran Tawana, Csaba Bodor, Jun Wang, Ai Nagano, James A. Heward, Sameena Iqbal, Steven Beset, Nicholas Lea, Donal McLornan, Emilia J. Kozyra, Marcin W. Wlodarski, Charlotte M. Niemeyer, Hamish Scott, Chris Hahn, Alicia Ellison, Hemanth Tummala, Shirleny Romualdo Cardoso, Tom Vulliamy, Inderjeet Dokal, Tom Butler, Matthew Smith, Jamie Cavenagh, Jude Fitzgibbon
Article
Multidisciplinary Sciences
Hemanth Tummala, Arran D. Dokal, Amanda Walne, Alicia Ellison, Shirleny Cardoso, Saranha Amirthasigamanipillai, Michael Kirwan, Isobel Browne, Jasmin K. Sidhu, Vinothini Rajeeve, Ana Rio-Machin, Ahad Al Seraihi, Andrew S. Duncombe, Matthew Jenner, Owen P. Smith, Helen Enright, Alice Norton, Tekin Aksu, Namik Yasar Ozbek, Nikolas Pontikos, Pedro Cutillas, Inderjeet Dokal, Tom Vulliamy
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2018)
Letter
Hematology
Amanda Walne, Hemanth Tummala, Alicia Ellison, Shirleny Cardoso, Jasmin Sidhu, Gabriela Sciuccati, Tom Vulliamy, Inderjeet Dokal
Letter
Hematology
Hemanth Tummala, Laura C. Collopy, Amanda J. Walne, Alicia Ellison, Shirleny Cardoso, Tekin Aksu, Nese Yarali, Deniz Aslan, Rustu Fikret Akata, Juliana Teo, Zhou Songyang, Nikolas Pontikos, Jude Fitzgibbon, Kazunori Tomita, Tom Vulliamy, Inderjeet Dokal
Article
Allergy
Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann, Isabella Quinti, Matthew Buckland, Joris van Montfrans, Raphael Scheible, Stephan Ruschb, Lukas M. Gasteiger, Bodo Grimbacher, Nizar Mahlaoui, Stephan Ehl, Mario Abinun, Michael Albert, Sarah Beaussant Cohen, Jacinta Bustamante, Andrew Cant, Jean-Laurent Casanova, Helen Chapel, Genevieve de Saint Basile, Esther de Vries, Inderjeet Dokal, Jean Donadieu, Anne Durandy, David Edgar, Teresa Espanol, Amos Etzioni, Alain Fischer, Bobby Gaspar, Richard Gatti, Andrew Gennery, Sofia Grigoriadou, Steven Holland, Gritta Janka, Maria Kanariou, Christoph Klein, Helen Lachmann, Desa Lilic, Ania Manson, Natalia Martinez, Isabelle Meyts, Nicolette Moes, Despina Moshous, Benedicte Neven, Hans Ochs, Capucine Picard, Ellen Renner, Frederic Rieux-Laucat, Reinhard Seger, Annarosa Soresina, Dominique Stoppa-Lyonnet, Vojtech Thon, Adrian Thrasher, Frank van de Veer-Donk, Anna Villa, Corry Weemaes, Klaus Warnatz, Beata Wolska, Shen-Yin Zhang
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2019)
Article
Genetics & Heredity
Daphna Nachmani, Anne H. Bothmer, Silvia Grisendi, Aldo Mele, Dietmar Bothmer, Jonathan D. Lee, Emanuele Monteleone, Ke Cheng, Yang Zhang, Assaf C. Bester, Alison Guzzetti, Caitlin A. Mitchell, Lourdes M. Mendez, Olga Pozdnyakova, Paolo Sportoletti, Maria-Paola Martelli, Tom J. Vulliamy, Modi Safra, Schraga Schwartz, Lucio Luzzatto, Olivier Bluteau, Jean Soulier, Robert B. Darnell, Brunangelo Falini, Inderjeet Dokal, Keisuke Ito, John G. Clohessy, Pier Paolo Pandolfi
Article
Multidisciplinary Sciences
Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bodor, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedeu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal
NATURE COMMUNICATIONS
(2020)
Article
Multidisciplinary Sciences
Hemanth Tummala, Amanda J. Walne, Findlay Bewicke-Copley, Alicia Ellison, Nikolas Pontikos, Maria G. Bridger, Ana Rio-Machin, Jasmin K. Sidhu, Jun Wang, Henrik Hasle, Jude Fitzgibbon, Tom Vulliamy, Inderjeet Dokal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Hematology
Amanda J. Walne, Tom Vulliamy, Findlay Bewicke-Copley, Jun Wang, Jenna Alnajar, Maria G. Bridger, Bernard Ma, Hemanth Tummala, Inderjeet Dokal
Summary: Gene expression profiling was performed on patients with inherited bone marrow failure (IBMF) subtypes, revealing common upregulation patterns in Fanconi anemia (FA), Shwachman-Diamond syndrome (SDS), and dyskeratosis congenita (DC) patients. Shared pathways in protein translation, RNA metabolism, and mitochondrial function were identified, along with a discovery set of 26 upregulated genes across IBMF subtypes. This study suggests a unified transcriptional drive in classic and uncharacterized IBMF subtypes, shedding light on disease pathogenesis and potential patient benefits.
Review
Hematology
Inderjeet Dokal, Hemanth Tummala, Tom Vulliamy
Summary: Inherited bone marrow failure syndromes are a group of diseases characterized by diverse manifestations and involvement of bone marrow failure. Significant progress has been made in the genetics of these diseases, revealing how genetic mutations disrupt normal hematopoiesis. Furthermore, these studies provide insights into human development and cancer. Genetic testing facilitates accurate diagnosis in clinical practice. Current treatment options have improved patient outcomes, but managing certain complications remains challenging.
Letter
Hematology
Sally B. Killick, Nick Bown, Jamie Cavenagh, Inderjeet Dokal, Theodora Foukaneli, Peter Hillmen, Robin Ireland, Austin Kulasekararaj, Ghulam Mufti, John A. Snowden, Sujith Samarasinghe, Anna Wood, Judith C. W. Marsh
BRITISH JOURNAL OF HAEMATOLOGY
(2018)