First person - Karen Lange [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Karen Lange is first author on ‘Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans’, published in DMM. Karen is a postdoc in the lab of Oliver Blacque at University College Dublin, Dublin, Ireland, using genome-editing techniques in worms to investigate ciliopathies, rare genetic disorders caused by defects in cilia. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - January 26, 2021 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans [RESEARCH ARTICLE]
This article has an associated First Person interview with the first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - January 26, 2021 Category: Biomedical Science Authors: Lange, K. I., Tsiropoulou, S., Kucharska, K., Blacque, O. E. Tags: Rare diseases, Developmental Disorders, C. elegans RESEARCH ARTICLE Source Type: research
Update of genetic variants in CEP120 and CC2D2A —With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
ConclusionGenotype ‐phenotype correlations forCC2D2A support the deleteriousness of null alleles andCC2D2A, but notCEP120, offers potential for therapeutic exon skipping approaches. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Miguel Barroso ‐Gil,
Eric Olinger,
Simon A. Ramsbottom,
Elisa Molinari,
Colin G. Miles,
John A. Sayer Tags: ORIGINAL ARTICLE Source Type: research
Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition [RESOURCES]
The human brain differs from that of other primates, but the genetic basis of these differences remains unclear. We investigated the evolutionary pressures acting on almost all human protein-coding genes (N=11,667; 1:1 orthologs in primates) based on their divergence from those of early hominins, such as Neanderthals, and non-human primates. We confirm that genes encoding brain-related proteins are among the most strongly conserved protein-coding genes in the human genome. Combining our evolutionary pressure metrics for the protein-coding genome with recent datasets, we found that this conservation applied to genes functio...
Source: Genome Research - January 13, 2021 Category: Genetics & Stem Cells Authors: Dumas, G., Malesys, S., Bourgeron, T. Tags: RESOURCES Source Type: research
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, includi... (Source: BMC Developmental Biology)
Source: BMC Developmental Biology - December 9, 2020 Category: Zoology Authors: L. Powell, M. Barroso-Gil, G. J. Clowry, L. A. Devlin, E. Molinari, S. A. Ramsbottom, C. G. Miles and J. A. Sayer Tags: Research article Source Type: research
An atypical presentation of Joubert syndrome due to a novel mutation in ZNF423 gene
Deepika Sivathanu, Dhanarathnamoorthy Vetrichelvan, Umamaheswari Balakrishnan, Ranjith Kumar ManokaranJournal of Pediatric Neurosciences 2020 15(3):294-296Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who present...
Source: Journal of Pediatric Neurosciences - November 6, 2020 Category: Neuroscience Authors: Deepika Sivathanu Dhanarathnamoorthy Vetrichelvan Umamaheswari Balakrishnan Ranjith Kumar Manokaran Source Type: research
GSE160300 ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus
Contributors : Michela Riba ; Luca Massimino ; Laura Croci ; Gian G Consalez ; Filippo CasoniSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusThe choroid plexus (ChP) is a secretory tissue that produces cerebrospinal fluid (CSF) secreted into the ventricular system. It is a monolayer of secretory, multiciliated epithelial cells derived from neuroepithelial progenitors and overlying a stroma of mesenchymal cells of mesodermal origin. Zfp423, encoding a Kruppel-type zinc finger transcription factor essential for cerebellar development and mutated in rare cases of cerebellar vermis hy...
Source: GEO: Gene Expression Omnibus - October 29, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Interpeduncular Heterotopia and Brain Stem Cleft: An Isolated Finding Not Associated with Joubert Syndrome
We described the imaging findings and diffusion tensor imaging data of a case with interpeduncular heterotopia and brain stem cleft. This is the first case, in which interpeduncular heterotopia was an isolated finding not associated with JS. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 27, 2020 Category: Neurology Authors: Sahap, Seda Kaynak Ucan, Berna Keskin, Derya Bako Goktas, Ozben Akinci Fitoz, Suat Tags: Short Communication Source Type: research
Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling [Signal Transduction]
We report here that CEP104 is critical for cilium elongation but not for initiating ciliogenesis. We also demonstrated that the tumor-overexpressed gene (TOG) domain of CEP104 exhibits microtubule-polymerizing activity and that this activity is essential for the cilium-elongating activity of CEP104. Knockdown/rescue experiments showed that the N-terminal jelly-roll (JR) fold partially contributes to cilium-elongating activity of CEP104, but neither the zinc-finger region nor the SXIP motif is required for this activity. CEP104 binds to a centriole-capping protein, CP110, through the zinc-finger region and to a microtubule ...
Source: Journal of Biological Chemistry - October 23, 2020 Category: Chemistry Authors: Takashi Yamazoe, Tomoaki Nagai, Shinya Umeda, Yuko Sugaya, Kensaku Mizuno Tags: Cell Biology Source Type: research
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome
Joubert syndrome (JBTS) and Meckel–Gruber syndrome (MKS) are rare recessive disorders caused by defects of cilia, and they share overlapping clinical features and allelic loci. Mutations of MKS1 contribute approximately 7% to all MKS cases and are found in some JBTS patients. Here, we describe a JBTS patient with two novel mutations of MKS1. Whole exome sequencing (WES) revealed c.191-1G > A and c.1058delG compound heterozygous variants. The patient presented with typical cerebellar vermis hypoplasia, hypotonia, and developmental delay, but without other renal/hepatic involvement or polydactyly. Functional studies sho...
Source: Frontiers in Genetics - October 14, 2020 Category: Genetics & Stem Cells Source Type: research
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome
Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 1, 2020 Category: Genetics & Stem Cells Authors: Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu and Xu Ma Tags: Case report Source Type: research
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene
Publication date: Available online 22 September 2020Source: Stem Cell ResearchAuthor(s): Eltahir Ali, Rosalba Monica Ferraro, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Valentina Serpieri, Enza Maria Valente, Lucio Giordano, Silvia Clara Giliani (Source: Stem Cell Research)
Source: Stem Cell Research - September 23, 2020 Category: Stem Cells Source Type: research
Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome
Journal of Clinical Sleep Medicine, Ahead of Print. (Source: Journal of Clinical Sleep Medicine : JCSM)
Source: Journal of Clinical Sleep Medicine : JCSM - September 8, 2020 Category: Sleep Medicine Authors: Jessica TaytardSt éphanie ValenceChiara SileoDiana RodriguezPlamen BokovGuillaume AubertinHarriet CorvolNicole Beydon1Pediatric Pulmonology Department, Trousseau Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, Fra Source Type: research
