Article
Genetics & Heredity
Laura Moreno-Leon, Marco A. Quezada-Ramirez, Evan Bilsbury, Courtney Kiss, Andrea Guerin, Hemant Khanna
Summary: Ciliopathies are severe inherited human disorders caused by defective cilia formation or function. This study identifies a novel RPGRIP1L variant associated with Meckel-Gruber Syndrome (MKS) and proposes a plausible mechanism of reduced ciliary localization due to the deletion of exon 6 of RPGRIP1L.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Janina R. Galler, Maria L. Bringas-Vega, Qin Tang, Arielle G. Rabinowitz, Kamarul Imran Musa, Wen Jia Chai, Hazim Omar, Muhammad Riddha Abdul Rahman, Aini Ismafairus Abd Hamid, Jafri Malin Abdullah, Pedro A. Valdes-Sosa
Summary: Approximately one in five children worldwide suffers from childhood malnutrition, with many surviving early malnutrition due to improved early interventions, but continuing to exhibit neurodevelopmental deficits over their lifetimes. Most studies have relied on neuropsychological tests, while few have assessed brain structure and function.
Article
Genetics & Heredity
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B. Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortuem, Delphine Heron, Cyril Mignot, Boris Keren, Susan Brooks, Christina Botti, Bruria Ben-Zeev, Emanuela Argilli, Elliot H. Sherr, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin D. Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami A. Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal M. Khouj, Javeria R. Alvi, Tipu Sultan, Narges Hashemi, Ehsan G. Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier
Summary: This study aims to investigate the mechanism of developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability caused by missense variants in the BTB domain region of the RHOBTB2 gene. Through international collaboration, researchers found that missense variants in the BTB domain region lead to severe developmental and epileptic encephalopathy. In addition, missense variants in the GTPase domain are associated with neurodevelopmental disorders, but have milder effects compared to variants in other regions. This study identifies the genetic phenomenon of RHOBTB2 gene mutations in neurodevelopmental disorders and expands the molecular and clinical spectrum of the related phenotypes.
GENETICS IN MEDICINE
(2023)
Article
Urology & Nephrology
Kathrin Burgmaier, Leonie Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Baerbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Ludwig Patzer, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomas Seeman, Lale Sever, Przemyslaw Sikora, Maria Szczepanska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz Thorsten Weber, Elke Wuehl, Klaus Zerres, Joerg Doetsch, Franz Schaefer, Max Christoph Liebau
Summary: ARPKD is a severe disease characterized by fibrocystic changes in kidneys and liver, caused by variants in the PKHD1 gene. A study identified new genotype-phenotype correlations, showing that different regions of the gene affect disease severity and outcomes, potentially guiding personalized treatment approaches.
KIDNEY INTERNATIONAL
(2021)
Article
Genetics & Heredity
Yuefang Liu, Hui Wang, Xin Jin, Qixiang Shao, Qiong Pan
Summary: Human ciliopathies are hereditary conditions caused by variants in ciliary-associated genes, leading to multiple system defects and challenges in prenatal diagnosis. This report presents eight new prenatal cases with ciliopathies, showcasing diverse clinical manifestations and novel gene variants.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drozdzyk, Anna Koscielniak, Andrzej Chramiec-Glabik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannva K. Abrahamsen, Christina D. Fenger, Camilla G. Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K. Hansen, Martin F. Boxill, Boris Keren, Isabelle Marey, Margarita S. Saenz, Kathleen Brown, Suzanne A. Alexander, Sergey Mureev, Alina Batzilla, Melissa J. Davis, Michael Piper, Mikael Boden, Thomas H. J. Burne, Nathan J. Palpant, Rikke S. Moller, Sebastian Glatt, Brandon J. Wainwright
Summary: The study identifies biallelic variants in the ELP2 gene causing intellectual disability (ID) and autism spectrum disorder (ASD), which lead to brain abnormalities in patients. The mutations negatively impact the activity of the Elongator complex and its function in brain development.
NATURE COMMUNICATIONS
(2021)
Review
Biochemistry & Molecular Biology
Jesus Eduardo Martin-Salazar, Diana Valverde
Summary: Primary cilia, non-motile organelles associated with the cell cycle, are formed through various mechanisms and are linked to gene complexes. Genetic defects can lead to faulty cilium formation and the occurrence of ciliopathies.
Article
Anatomy & Morphology
E. E. Hecht, I Zapata, C. E. Alvarez, D. A. Gutman, T. M. Preuss, M. Kent, J. A. Serpell
Summary: The study found that behavioral traits in dogs are related to neural structures, with social processing and fight-or-flight response networks associated with fear and aggression, while trainability is linked to the expansion of brain cortex.
BRAIN STRUCTURE & FUNCTION
(2021)
Article
Computer Science, Artificial Intelligence
Weikang Gong, Christian F. Beckmann, Stephen M. Smith
Summary: Neuroimaging allows for detailed non-invasive study of the brain, with potential value for early disease diagnosis and understanding. A new multimodal independent component analysis approach is presented for data fusion in the full UK Biobank dataset, improving predictive power for thousands of phenotypic and behavioral variables.
MEDICAL IMAGE ANALYSIS
(2021)
Article
Psychology, Developmental
Sadie J. Zacharek, Sahana Kribakaran, Elizabeth R. Kitt, Dylan G. Gee
Summary: Anxiety disorders are common among youth, with neurodevelopmental trajectories playing a key role in understanding pediatric anxiety. Challenges in neuroimaging research have limited progress in this area, but 'big data' holds promise for mapping these trajectories and informing risk identification and treatment targets. Age-related differences in neural structure and function, particularly in threat and safety learning, contribute to our understanding of pediatric anxiety and can be further elucidated through large-scale studies.
DEVELOPMENTAL COGNITIVE NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, Elise Ng-Cordell, Abinayah John, Panayiotis Constantinou, Shelagh Joss, Martin Larsen, Christina Fagerberg, Lone Walentin Laulund, Jenny Thies, Frances Emslie, Marjolein Willemsen, Tjitske Kleefstra, Rolf Pfundt, Rebekah Barrick, Richard Chang, Lucy Loong, Majid Alfadhel, Jasper van der Smagt, Mathilde Nizon, Manju A. Kurian, Daniel J. Scott, Joshua J. Ziarek, Sarah L. Gordon, Kate Baker
Summary: The purpose of this study is to expand the genotypes and phenotypes of SYT1 gene mutations and identify the characteristics of this disorder. By analyzing the evidence, we determined the pathogenicity of these mutations and described the common clinical manifestations. In addition, we found that the clinical spectrum of this disease includes a broader range of severities. This study is of guiding significance for the diagnosis and molecular understanding of this rare neurodevelopmental disorder, and highlights the important role of the SYT1 gene in emotional regulation, motor control, and cognitive function.
GENETICS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Manuela Morleo, Simona Brillante, Umberto Formisano, Luigi Ferrante, Fabrizia Carbone, Daniela Iaconis, Alessandro Palma, Viviana Buonomo, Angela Serena Maione, Paolo Grumati, Carmine Settembre, Brunella Franco
Summary: A negative feedback mechanism limiting autophagosome biogenesis by degrading ATG13 is discovered, with OFD1 acting as an autophagy receptor for ATG13. Mutations in the OFD1 gene may lead to excessive autophagy, implicating dysregulated autophagy in the pathogenesis of renal cystic disease in mammals.
Article
Pediatrics
Carla R. Pinto, Joao V. Duarte, Carla Marques, Ines N. Vicente, Catarina Paiva, Joao eloi, Daniela J. Pereira, Barbara R. Correia, Miguel Castelo-Branco, Guiomar Oliveira
Summary: Reliably assessing the early neurodevelopmental outcomes in infants with neonatal encephalopathy (NE) is crucial for providing guidance to parents and implementing early interventions. This study aimed to evaluate the accuracy of neuroimaging modalities, including fMRI, in predicting neurodevelopmental outcomes in NE. Structural MRI findings were the best predictor of severe disability, while fMRI with sensorimotor stimulation showed potential in predicting absence of cerebral palsy (CP). Further research with a larger cohort is needed to confirm these findings.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Review
Genetics & Heredity
Simone Gana, Valentina Serpieri, Enza Maria Valente
Summary: Joubert syndrome is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the molar tooth sign, and variable organ involvement. Over 40 causative genes have been identified, explaining up to 94% of cases. Only a few genes have been correlated with specific phenotypes, so there is a need for further research in this area.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Manuela Morleo, Nunziana Pezzella, Brunella Franco
Summary: The balance of protein synthesis and degradation is crucial for cellular homeostasis and biological processes. Recent studies have revealed that centrosomal/ciliary proteins play a role in proteome control in response to spatial or microenvironmental stimuli. Understanding this balance in ciliopathies may lead to the identification of novel therapeutic targets for these genetic disorders.
TRENDS IN MOLECULAR MEDICINE
(2023)
Article
Genetics & Heredity
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jerome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Heron, Geraldine Viot, Jeanne Amiel, Daniel Amram, Celine Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valerie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Helene Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andree Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, Andre Megarbane, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloe Quelin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michele Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki
Summary: In this study, genetic diagnosis was achieved in 52.7% of AMC index patients, with the identification of nine newly discovered genes. The primary cause of AMC was determined to be skeletal muscle involvement (40%), with autosomal recessive inheritance being the most frequent mode (66.3%). In sporadic cases born to non-consanguineous parents, de novo dominant autosomal or X linked variants were observed in 50% of cases.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R. Lemke, John A. Bernat, Hannah M. Bombei, Nicola Foulds, David Hunt, Alma Kuechler, Jasmin Beygo, Petra Stobe, Arjan Bouman, Maria Palomares-Bralo, Fernando Santos-Simarro, Sixto Garcia-Minaur, Marta Pacio-Miguez, Bernt Popp, Georgia Vasileiou, Moritz Hebebrand, Andre Reis, Sarah Schuhmann, Mandy Krumbiegel, Natasha J. Brown, Peter Sparber, Lyusya Melikyan, Liudmila Bessonova, Tatiana Cherevatova, Artem Sharkov, Natalia Shcherbakova, Tabib Dabir, Usha Kini, Eva M. C. Schwaibold, Tobias B. Haack, Marta Bertoli, Sabine Hoffjan, Ruth Falb, Marwan Shinawi, Heinrich Sticht, Christiane Zweier
Summary: De novo FBXO11 variants have been identified as causative for a variable neurodevelopmental disorder, with a complex phenotypic spectrum including developmental delay, intellectual disability, behavioral anomalies, hypotonia, and various facial dysmorphism. Functional analysis of missense variants suggests a likely loss of the original FBXO11 function, highlighting haploinsufficiency as the most probable disease mechanism for FBXO11-associated NDDs.
HUMAN MOLECULAR GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, Vincent Gatinois, Mouna Barat-Houari, Elodie Sanchez, Didier Lacombe, Stephanie Arpin, Fabienne Giuliano, Damien Haye, Marlene Rio, Annick Toutain, Klaus Dieterich, Elise Brischoux-Boucher, Sophie Julia, Mathilde Nizon, Alexandra Afenjar, Boris Keren, Aurelia Jacquette, Sebastien Moutton, Marie-Line Jacquemont, Claire Duflos, Yline Capri, Jeanne Amiel, Patricia Blanchet, Stanislas Lyonnet, Damien Sanlaville, David Genevieve
Summary: Kabuki syndrome is a rare genetic disorder caused by mutations in different genes, with no clear clinical distinction between KS1 and KS2. Research shows that facial morphology analysis and algorithm can differentiate the facial morphological differences between individuals with KS1 and KS2.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Anne-Sophie Denomme-Pichon, Antonio Vitobello, Robert Olaso, Alban Ziegler, Mederic Jeanne, Frederic Tran Mau-Them, Victor Couturier, Caroline Racine, Bertrand Isidor, Charlotte Poe, Thibaud Jouan, Anne Boland, Bertrand Fin, Delphine Bacq-Daian, Celine Besse, Aurore Garde, Adeline Prost, Philippine Garret, Emilie Tisserant, Julian Delanne, Sophie Nambot, Aurelien Juven, Magali Gorce, Mathilde Nizon, Marie Vincent, Sebastien Moutton, Melanie Fradin, Alinoe Lavillaureix, Paul Rollier, Yline Capri, Julien Van-Gils, Tiffany Busa, Sabine Sigaudy, Laurent Pasquier, Magalie Barth, Ange-Line Bruel, Cyril Flamant, Clement Prouteau, Dominique Bonneau, Annick Toutain, Corinne Chantegret, Patrick Callier, Christophe Philippe, Yannis Duffourd, Jean-Francois Deleuze, Arthur Sorlin, Laurence Faivre, Christel Thauvin-Robinet
Summary: Accelerated trio-genome sequencing (GS) is valuable for infants with early-onset rare diseases in urgent care contexts, leading to molecular diagnosis with corrective measures and protocol adaptations. A circuit with rapid or ultra-rapid GS should coexist, with decreasing costs resulting in generalized use for diagnostic purposes and reduction of the costs of rapid GS.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Cheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, Himanshu Goel, Patrick Yap, Vivienne McConnell
Summary: Pathogenic variants in IQSEC2 gene play a key role in neurodevelopment, with intellectual disability as a common feature. We report five cases with novel missense variants in the PH domain, resulting in moderate to profound intellectual disability and language developmental delay.
Article
Dermatology
Marion Rolland, Christele Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier
Summary: This case report describes a patient with CHIME syndrome showing atypical clinical features and laboratory findings, with a novel likely pathogenic PIGL missense variant detected on the maternal allele. This highlights the potential for phenotypic/genotypic variations in CHIME syndrome.
PEDIATRIC DERMATOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Laurent Pasquier, Maryn Reyneke, Lauranne Beeckman, Maria Siermann, Eva Van Steijvoort, Pascal Borry
Summary: The study provides an overview of the perspectives of multiple professional stakeholder groups on the responsible implementation of population-based reproductive genetic carrier screening. Based on a systematic literature search, 18 studies were identified and ten themes related to clinical and program management challenges were identified.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Manuela Morleo, Nunziana Pezzella, Brunella Franco
Summary: The balance of protein synthesis and degradation is crucial for cellular homeostasis and biological processes. Recent studies have revealed that centrosomal/ciliary proteins play a role in proteome control in response to spatial or microenvironmental stimuli. Understanding this balance in ciliopathies may lead to the identification of novel therapeutic targets for these genetic disorders.
TRENDS IN MOLECULAR MEDICINE
(2023)
Article
Genetics & Heredity
Jeremy Dana, Guillaume Dorval, Christine Saint Martin, Kahina Belhous, Raphael Levy, Sandrine Marlin, Isabelle De Bie, Manon Mautret-Godefroy, Antonio Rausell, Marlene Rio, Elise Boucher-Brischoux, Tania Attie-Bitach, Nathalie Boddaert, Veronique Pingault
Summary: A retrospective cohort study was conducted to establish the genotype-phenotype correlation for CHD7-related CHARGE syndrome through unsupervised machine learning and clustering of 42 patients. Three clusters with different severities of phenotypes were identified. One patient with the most atypical phenotype and the most distal frameshift variant stood out in the third cluster. Two other patients with similar distal pathogenic variants showed tendencies towards mild and/or atypical phenotypes. These findings suggest that the milder phenotypes may result from the production of a protein retaining all functional domains, rather than escaping nonsense mediated RNA decay.
Article
Genetics & Heredity
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Smigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kazmierczak, Rafal Ploski, Ewa Emich-Widera, Barbara Steinborn
Summary: This study analyzed the first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic KIF1A variants. Three novel variants were identified. The authors highlighted the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily.
Article
Genetics & Heredity
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kazmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wisniowiecka-Kowalnik, Magdalena Bartnik-Glaska, Magdalena Niemiec, Dominika Grad, Malgorzata Piotrowicz, Dorota Gieruszczak-Bialek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
Summary: This study investigated the impact of additional genomic variants on the clinical presentation of patients with 22q11.2 deletion syndrome. Findings showed that 6.3% of patients had pathogenic or likely pathogenic copy number variants outside of the 22q11.2 region, indicating their contribution to the clinical phenotype. Furthermore, exome sequencing revealed pathogenic and likely pathogenic single nucleotide variants and small copy number variants in 3.49% and 5.81% of patients, respectively. These results highlight the importance of genome-wide approaches in identifying clinically relevant changes in individuals with 22q11 deletion syndrome.
Article
Cell Biology
Kishor Pant, Seth Richard, Estanislao Peixoto, Jun Yin, Davis M. Seelig, Pietro Carotenuto, Massimiliano Salati, Brunella Franco, Lewis R. Roberts, Sergio A. Gradilone
Summary: The study reveals that targeting the NAMPT/NAD+ pathway with FK866 can inhibit the growth of CCA cells and alter their mitochondrial metabolism. Additionally, FK866 enhances the anticancer effects of cisplatin in vitro. These findings suggest that NAMPT/NAD+ pathway may be a potential therapeutic target for CCA, and FK866 may serve as a useful medication in combination with cisplatin.
Article
Genetics & Heredity
Godelieve Morel, Sylvain Ernest, Margaux Serey-Gaut, Laurence Jonard, Abeke Ralyath Balogoun, Marine Parodi, Natalie Loundon, Sophie Achard, Sandrine Marlin
Summary: Cochleovestibular dysfunctions are rare conditions that are often misrecognized. A study on Tunisian siblings revealed a homozygous pathogenic variation in the RIPOR2 gene, leading to congenital bilateral profound hearing and vestibular dysfunctions. However, contrary to our findings, deaf mouse and zebrafish models with Ripor2 knockout had normal vestibular function.
Review
Genetics & Heredity
Mina Kolahdouzmohammadi, Roya Kolahdouz-Mohammadi, Seyed Abdolhossein Tabatabaei, Brunella Franco, Mehdi Totonchi
Summary: Autophagy is a highly conserved biological process that controls intracellular recycling and is crucial for cellular homeostasis and differentiation programs, including cardiomyocyte differentiation. The interaction between autophagy and signaling pathways such as FGF, Wnt, Notch, and BMPs is essential for controlling cardiac differentiation. Modulating autophagy has been shown to improve cardiac differentiation and generate mature cardiac cells, highlighting the importance of further studying autophagy in this process.
Review
Genetics & Heredity
Pietro Carotenuto, Sergio A. Gradilone, Brunella Franco
Summary: Cilia are microtubule-based organelles that project from the cell surface with motility or sensory functions. The primary cilia work as antennae to sense and transduce extracellular signals. Recent studies have shown that primary cilia play important roles in autophagy and genome stability, which are crucial in oncogenesis.
