| scholarly article | Q13442814 |
| P50 | author | Sonia Jimeno | Q50731953 |
| Pablo Huertas | Q53996888 | ||
| Stephen P Jackson | Q37392575 | ||
| Mette Nyegaard | Q41638418 | ||
| Per Qvist | Q48844959 | ||
| P2093 | author name string | Anders D Børglum | |
| Muhammad J Hassan | |||
| P2860 | cites work | Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor | Q22253893 |
| Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response | Q22254665 | ||
| DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains | Q24306945 | ||
| CEP152 is a genome maintenance protein disrupted in Seckel syndrome | Q24312725 | ||
| N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair | Q24316509 | ||
| CDK targets Sae2 to control DNA-end resection and homologous recombination | Q24328867 | ||
| Functional uncoupling of MCM helicase and DNA polymerase activities activates the ATR-dependent checkpoint. | Q24522744 | ||
| A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size | Q24570115 | ||
| DNA resection in eukaryotes: deciding how to fix the break | Q24603592 | ||
| Human CtIP promotes DNA end resection | Q24646062 | ||
| Sae2 is an endonuclease that processes hairpin DNA cooperatively with the Mre11/Rad50/Xrs2 complex | Q27932404 | ||
| Human CtIP mediates cell cycle control of DNA end resection and double strand break repair | Q28118984 | ||
| A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome | Q28183834 | ||
| SIAH-1 interacts with CtIP and promotes its degradation by the proteasome pathway | Q28189105 | ||
| Enhanced DNA-PK-mediated RPA2 hyperphosphorylation in DNA polymerase eta-deficient human cells treated with cisplatin and oxaliplatin | Q28269485 | ||
| Inactivation of CtIP leads to early embryonic lethality mediated by G1 restraint and to tumorigenesis by haploid insufficiency | Q28589334 | ||
| ATR: an essential regulator of genome integrity | Q29547883 | ||
| Ctp1 is a cell-cycle-regulated protein that functions with Mre11 complex to control double-strand break repair by homologous recombination | Q33302634 | ||
| Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. | Q33960544 | ||
| Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. | Q34142158 | ||
| Distinct spatiotemporal dynamics of mammalian checkpoint regulators induced by DNA damage | Q34179079 | ||
| A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. | Q34520281 | ||
| A New Method for Introducing Double-Strand Breaks into Cellular DNA | Q36695831 | ||
| The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders | Q37155150 | ||
| Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | Q38632163 | ||
| A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein | Q39758925 | ||
| A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. | Q39825284 | ||
| CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle. | Q39862482 | ||
| Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. | Q40501657 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P433 | issue | 10 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | e1002310 | |
| P577 | publication date | 2011-10-01 | |
| P1433 | published in | PLOS Genetics | Q1893441 |
| P1476 | title | CtIP Mutations Cause Seckel and Jawad Syndromes | |
| P478 | volume | 7 |
| Q52145439 | A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation. |
| Q28488177 | ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response |
| Q35129157 | Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells |
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| Q28261525 | Advances in Skeletal Dysplasia Genetics |
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| Q41918656 | Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome |
| Q35861690 | BRCA1 tumor suppressor network: focusing on its tail |
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| Q28589697 | CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination |
| Q27324477 | COM-1 promotes homologous recombination during Caenorhabditis elegans meiosis by antagonizing Ku-mediated non-homologous end joining |
| Q38994140 | Catalytic and noncatalytic roles of the CtIP endonuclease in double-strand break end resection |
| Q61451631 | CtIP forms a tetrameric dumbbell-shaped particle which bridges complex DNA end structures for double-strand break repair |
| Q92397639 | CtIP is essential for telomere replication |
| Q38721827 | CtIP/Ctp1/Sae2, molecular form fit for function |
| Q64235701 | Ctp1 protein-DNA filaments promote DNA bridging and DNA double-strand break repair |
| Q28118714 | Cullin3-KLHL15 ubiquitin ligase mediates CtIP protein turnover to fine-tune DNA-end resection |
| Q41107828 | DNA end resection requires constitutive sumoylation of CtIP by CBX4. |
| Q91290605 | DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility |
| Q26862285 | DNA replication stress: causes, resolution and disease |
| Q26997852 | Diseases associated with defective responses to DNA damage |
| Q21144903 | Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome |
| Q34585782 | Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2. |
| Q34995938 | Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain. |
| Q33410904 | Extreme growth failure is a common presentation of ligase IV deficiency |
| Q34130975 | Genetic evaluation of short stature. |
| Q39286284 | Genetics of Short Stature |
| Q37550236 | Genomic analysis of primordial dwarfism reveals novel disease genes |
| Q90609298 | High-throughput DNA Sequencing Identifies Novel CtIP (RBBP8) Variants in Muscle-invasive Bladder Cancer Patients |
| Q28485037 | Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome |
| Q27310217 | LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice |
| Q55671549 | Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism |
| Q41929231 | MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. |
| Q36583279 | MRN, CtIP, and BRCA1 mediate repair of topoisomerase II-DNA adducts. |
| Q47154064 | Meta-analysis of DNA double-strand break response kinetics |
| Q29994631 | Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review |
| Q36098655 | Mutations in CDK5RAP2 cause Seckel syndrome |
| Q24294981 | Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism |
| Q41654115 | Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism |
| Q34679213 | Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis |
| Q28258055 | Mutations in the NHEJ component XRCC4 cause primordial dwarfism |
| Q38922310 | Neddylation inhibits CtIP-mediated resection and regulates DNA double strand break repair pathway choice |
| Q26822478 | Nucleases in homologous recombination as targets for cancer therapy |
| Q36152933 | POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism |
| Q39251262 | Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations |
| Q34672718 | Primordial dwarfism: overview of clinical and genetic aspects. |
| Q53358856 | RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. |
| Q35002075 | Recognition and repair of chemically heterogeneous structures at DNA ends |
| Q35490135 | SV40 utilizes ATM kinase activity to prevent non-homologous end joining of broken viral DNA replication products |
| Q64079477 | Seeing is believing: DNA zipping promotes DNA repair |
| Q33959953 | Small organelle, big responsibility: the role of centrosomes in development and disease |
| Q36419741 | TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism |
| Q35054726 | Tetrameric Ctp1 coordinates DNA binding and DNA bridging in DNA double-strand-break repair. |
| Q57252972 | The Genetics of Brain Malformations |
| Q27061916 | The Implicitome: A Resource for Rationalizing Gene-Disease Associations |
| Q27305012 | The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in Drosophila |
| Q47595678 | The evolution of cortical development: the synapsid-diapsid divergence. |
| Q38985016 | The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery |
| Q36002411 | Two separable functions of Ctp1 in the early steps of meiotic DNA double-strand break repair |
| Q92209151 | Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model |
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