- Home
- Publications
- Publication Search
- Publication Details
Title
Cyclin-dependent kinases and rare developmental disorders
Authors
Keywords
-
Journal
Orphanet Journal of Rare Diseases
Volume 15, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-08-06
DOI
10.1186/s13023-020-01472-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis
- (2020) Xiaokun Zhou et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5
- (2020) Andrew Kodani et al. NEURON
- MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations
- (2020) Tomohiro Sameshima et al. PEDIATRICS INTERNATIONAL
- A genomics approach to females with infertility and recurrent pregnancy loss
- (2020) Sateesh Maddirevula et al. HUMAN GENETICS
- Germline mutations predisposing to melanoma
- (2020) Atrin Toussi et al. JOURNAL OF CUTANEOUS PATHOLOGY
- De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
- (2019) Eduardo Calpena et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Quality and quantity control of gene expression by nonsense-mediated mRNA decay
- (2019) Tatsuaki Kurosaki et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
- (2019) Gerarda Cappuccio et al. Molecular Genetics & Genomic Medicine
- Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
- (2019) Joanne Trinh et al. Journal of Neurodevelopmental Disorders
- Atypical cyclins: the extended family portrait
- (2019) Eva Quandt et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey
- (2019) Nagehan Emiralioğlu et al. PEDIATRIC PULMONOLOGY
- A Non-catalytic Function of SETD1A Regulates Cyclin K and the DNA Damage Response
- (2018) Takayuki Hoshii et al. CELL
- De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
- (2018) W.M.R. van den Akker et al. CLINICAL GENETICS
- Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects
- (2018) Tomoko Uehara et al. European Journal of Medical Genetics
- High-throughput mouse phenomics for characterizing mammalian gene function
- (2018) Steve D. M. Brown et al. NATURE REVIEWS GENETICS
- De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
- (2018) Yanjie Fan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comprehensive genotype-phenotype correlation in lissencephaly
- (2018) Ai Peng Tan et al. QUANTITATIVE IMAGING IN MEDICINE AND SURGERY
- Cyclin-dependent protein serine/threonine kinase inhibitors as anticancer drugs
- (2018) Robert Roskoski PHARMACOLOGICAL RESEARCH
- CDK 4/6 Inhibitors as Single Agent in Advanced Solid Tumors
- (2018) Francesco Schettini et al. Frontiers in Oncology
- Heterozygous mutations affecting the protein kinase domain ofCDK13cause a syndromic form of developmental delay and intellectual disability
- (2017) Mark J Hamilton et al. JOURNAL OF MEDICAL GENETICS
- Modeling human disease in rodents by CRISPR/Cas9 genome editing
- (2017) Marie-Christine Birling et al. MAMMALIAN GENOME
- The development and functions of multiciliated epithelia
- (2017) Nathalie Spassky et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Transcription regulation by the Mediator complex
- (2017) Julie Soutourina NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility
- (2017) Marc Núnez-Ollé et al. Oncotarget
- Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
- (2017) Bret L. Bostwick et al. Genome Medicine
- An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families
- (2017) Ting Guo et al. Scientific Reports
- BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
- (2016) Cristina Dias et al. AMERICAN JOURNAL OF HUMAN GENETICS
- STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis
- (2016) Vincent J. Guen et al. CELL CYCLE
- Cyclin G2 promotes cell cycle arrest in breast cancer cells responding to fulvestrant and metformin and correlates with patient survival
- (2016) Maike Zimmermann et al. CELL CYCLE
- Systematic Analysis ofCCNOVariants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis
- (2016) Israel Amirav et al. HUMAN MUTATION
- A Tale of the Good and Bad: Remodeling of the Microtubule Network in the Brain by Cdk5
- (2016) Kavita Shah et al. MOLECULAR NEUROBIOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
- (2016) Alejandro Sifrim et al. NATURE GENETICS
- Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
- (2016) Tarjinder Singh et al. NATURE NEUROSCIENCE
- Non-canonical functions of cell cycle cyclins and cyclin-dependent kinases
- (2016) Per Hydbring et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations (‘STAR’) syndrome
- (2016) Faruk H. Orge et al. OPHTHALMIC GENETICS
- De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
- (2016) Alfonso Caro-Llopis et al. PEDIATRIC RESEARCH
- Structural and Functional Analysis of the Cdk13/Cyclin K Complex
- (2016) Ann Katrin Greifenberg et al. Cell Reports
- Bcl11a Deficiency Leads to Hematopoietic Stem Cell Defects with an Aging-like Phenotype
- (2016) Sidinh Luc et al. Cell Reports
- STAR syndrome is part of the differential diagnosis of females with anorectal malformations
- (2015) Yuri A. Zarate et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
- (2015) Nidhi Sahni et al. CELL
- Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells
- (2015) M. C. Funk et al. EMBO JOURNAL
- Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5
- (2015) Daniella Magen et al. HUMAN GENETICS
- Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability
- (2015) Silvia Moncini et al. JOURNAL OF HUMAN GENETICS
- CDK6—a review of the past and a glimpse into the future: from cell-cycle control to transcriptional regulation
- (2015) A-S Tigan et al. ONCOGENE
- Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population
- (2014) Jillian P Casey et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression
- (2014) Hong-Ru Chen et al. EXPERIMENTAL NEUROLOGY
- Cdk5 activity in the brain - multiple paths of regulation
- (2014) K. Shah et al. JOURNAL OF CELL SCIENCE
- De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- (2014) Ghayda M Mirzaa et al. NATURE GENETICS
- Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
- (2014) Julia Wallmeier et al. NATURE GENETICS
- The structure and substrate specificity of human Cdk12/Cyclin K
- (2014) Christian A. Bösken et al. Nature Communications
- Cyclin-dependent kinases
- (2014) Marcos Malumbres GENOME BIOLOGY
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
- (2013) Muhammad S. Hussain et al. HUMAN MOLECULAR GENETICS
- CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome
- (2013) V. J. Guen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cyclin K-containing Kinase Complexes Maintain Self-renewal in Murine Embryonic Stem Cells
- (2012) Qian Dai et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- A Systematic Screen for CDK4/6 Substrates Links FOXM1 Phosphorylation to Senescence Suppression in Cancer Cells
- (2011) Lars Anders et al. CANCER CELL
- The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes
- (2011) D. Blazek et al. GENES & DEVELOPMENT
- Yeast two-hybrid methods and their applications in drug discovery
- (2011) Amel Hamdi et al. TRENDS IN PHARMACOLOGICAL SCIENCES
- CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
- (2010) Arijit Mukhopadhyay et al. HUMAN GENETICS
- Detection of clinically relevant exonic copy-number changes by array CGH
- (2010) Philip M. Boone et al. HUMAN MUTATION
- Functional genomic screen for modulators of ciliogenesis and cilium length
- (2010) Joon Kim et al. NATURE
- Cyclin D2 Is Critical for Intermediate Progenitor Cell Proliferation in the Embryonic Cortex
- (2009) S. B. Glickstein et al. JOURNAL OF NEUROSCIENCE
- Mammalian cell-cycle regulation: several Cdks, numerous cyclins and diverse compensatory mechanisms
- (2009) A Satyanarayana et al. ONCOGENE
- Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
- (2008) Sheila Unger et al. NATURE GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started