BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 2017;140:940-52. [PMID: 28334956 DOI: 10.1093/brain/awx014] [Cited by in Crossref: 36] [Cited by in F6Publishing: 40] [Article Influence: 7.2] [Reference Citation Analysis]
Number Citing Articles
1 Gholizadeh MA, Mohammadi-Sarband M, Fardanesh F, Garshasbi M. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene. BMC Med Genomics 2022;15:78. [PMID: 35379233 DOI: 10.1186/s12920-022-01228-6] [Reference Citation Analysis]
2 Tang C, Todo Y, Ji J, Tang Z. A novel motion direction detection mechanism based on dendritic computation of direction-selective ganglion cells. Knowledge-Based Systems 2022;241:108205. [DOI: 10.1016/j.knosys.2022.108205] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
3 Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Bacino CA, Lee BH, Chao HT; Undiagnosed Diseases Network. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A 2022. [PMID: 35194938 DOI: 10.1002/ajmg.a.62704] [Reference Citation Analysis]
4 Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med 2021:S1098-3600(21)05366-1. [PMID: 34906488 DOI: 10.1016/j.gim.2021.10.014] [Reference Citation Analysis]
5 Bibbò F, Sorice C, Ferrucci V, Zollo M. Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors. Front Oncol 2021;11:758146. [PMID: 34745995 DOI: 10.3389/fonc.2021.758146] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
6 Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D; Baylor-Hopkins Center for Mendelian Genomics. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet 2021;108:1981-2005. [PMID: 34582790 DOI: 10.1016/j.ajhg.2021.08.009] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 7.0] [Reference Citation Analysis]
7 Mathis CL, Barrios AM. Histidine phosphorylation in metalloprotein binding sites. J Inorg Biochem 2021;225:111606. [PMID: 34555600 DOI: 10.1016/j.jinorgbio.2021.111606] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
8 Casto C, Dipasquale V, Ceravolo I, Gambadauro A, Aliberto E, Galletta K, Granata F, Ceravolo G, Falzia E, Riva A, Piccolo G, Cutrupi MC, Striano P, Accogli A, Zara F, Di Rosa G, Gitto E, Calì E, Efthymiou S, Salpietro V, Houlden H, Chimenz R. Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome. Brain Sci 2021;11:1150. [PMID: 34573171 DOI: 10.3390/brainsci11091150] [Reference Citation Analysis]
9 Koko M, Yahia A, Elsayed LE, Hamed AA, Mohammed IN, Elseed MA, Hamad MHA, Babai AM, Siddig RA, Abd Allah ASI, Mohamed M, El-Amin M, Esteves T, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Salih MA, Ahmed AE, Lerche H, Stevanin G. An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann Hum Genet 2021;85:186-95. [PMID: 34111303 DOI: 10.1111/ahg.12437] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
10 Baijal K, Downey M. The promises of lysine polyphosphorylation as a regulatory modification in mammals are tempered by conceptual and technical challenges. Bioessays 2021;43:e2100058. [PMID: 33998006 DOI: 10.1002/bies.202100058] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
11 Riva A, Gambadauro A, Dipasquale V, Casto C, Ceravolo MD, Accogli A, Scala M, Ceravolo G, Iacomino M, Zara F, Striano P, Cuppari C, Di Rosa G, Cutrupi MC, Salpietro V, Chimenz R. Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum. Int J Mol Sci 2021;22:4471. [PMID: 33922911 DOI: 10.3390/ijms22094471] [Reference Citation Analysis]
12 Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet 2021;29:3516-31. [PMID: 33105479 DOI: 10.1093/hmg/ddaa237] [Cited by in Crossref: 3] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
13 Sabaie H, Ahangar NK, Ghafouri-Fard S, Taheri M, Rezazadeh M. Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review. Biomed Pharmacother 2020;131:110793. [PMID: 33152950 DOI: 10.1016/j.biopha.2020.110793] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
14 Iacobucci I, Monaco V, Cozzolino F, Monti M. From classical to new generation approaches: An excursus of -omics methods for investigation of protein-protein interaction networks. J Proteomics 2021;230:103990. [PMID: 32961344 DOI: 10.1016/j.jprot.2020.103990] [Cited by in Crossref: 9] [Cited by in F6Publishing: 13] [Article Influence: 4.5] [Reference Citation Analysis]
15 Milone R, Aiello C, Pasquariello R, Rubegni A, Santorelli FM, Battini R, Bertini E. Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy. Journal of Pediatric Neurology 2021;19:116-23. [DOI: 10.1055/s-0040-1715526] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
16 Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. Eur J Hum Genet 2021;29:141-53. [PMID: 32860008 DOI: 10.1038/s41431-020-00713-9] [Cited by in Crossref: 8] [Cited by in F6Publishing: 18] [Article Influence: 4.0] [Reference Citation Analysis]
17 Tiwary BK. The cognitive and speech genes are jointly shaped by both positive and relaxed selection in the human lineage. Genomics 2020;112:2922-7. [PMID: 32387504 DOI: 10.1016/j.ygeno.2020.05.006] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
18 Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen A, Tyynismaa H, Courage C, Lehesjoki A. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. European Journal of Medical Genetics 2020;63:103766. [DOI: 10.1016/j.ejmg.2019.103766] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
19 Fujii H, Sato N, Takanashi JI, Kimura Y, Morimoto E, Shigemoto Y, Suzuki F, Sasaki M, Sugimoto H. Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder. Brain Dev 2020;42:302-6. [PMID: 31882333 DOI: 10.1016/j.braindev.2019.12.001] [Cited by in Crossref: 4] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
20 Ferrucci V, de Antonellis P, Pennino FP, Asadzadeh F, Virgilio A, Montanaro D, Galeone A, Boffa I, Pisano I, Scognamiglio I, Navas L, Diana D, Pedone E, Gargiulo S, Gramanzini M, Brunetti A, Danielson L, Carotenuto M, Liguori L, Verrico A, Quaglietta L, Errico ME, Del Monaco V, D'Argenio V, Tirone F, Mastronuzzi A, Donofrio V, Giangaspero F, Picard D, Remke M, Garzia L, Daniels C, Delattre O, Swartling FJ, Weiss WA, Salvatore F, Fattorusso R, Chesler L, Taylor MD, Cinalli G, Zollo M. Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1-TGF-β-OTX2-SNAIL via PTEN inhibition. Brain 2018;141:1300-19. [PMID: 29490009 DOI: 10.1093/brain/awy039] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 3.3] [Reference Citation Analysis]
21 Wu L, Wei Y, Zhou WB, Zhang YS, Chen QH, Liu MX, Zhu ZP, Zhou J, Yang LH, Wang HM, Wei GM, Wang S, Tang ZG. Gene expression alterations of human liver cancer cells following borax exposure. Oncol Rep 2019;42:115-30. [PMID: 31180554 DOI: 10.3892/or.2019.7169] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
22 Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, Manole A, Efthymiou S, Al Mutairi F, Bertini E, Tartaglia M, Houlden H; SYNAPS Study Group. The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. Brain 2017;140:e49. [PMID: 28899015 DOI: 10.1093/brain/awx155] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 3.7] [Reference Citation Analysis]
23 Karakaya M, Yilmaz S, Storbeck M, Hoelker I, Heller R, Serdaroglu G, Gökben S, Yis U, Wirth B. PRUNE1: a disease-causing gene for secondary microcephaly. Brain 2017;140:e61. [PMID: 28969376 DOI: 10.1093/brain/awx197] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
24 Õunap K, Muru K, Õiglane-Shlik E, Ilves P, Pajusalu S, Kuus I, Wojcik MH, Reimand T. PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 2020;63:103660. [PMID: 31048081 DOI: 10.1016/j.ejmg.2019.04.017] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
25 Federico A, Sepe R, Cozzolino F, Piccolo C, Iannone C, Iacobucci I, Pucci P, Monti M, Fusco A. The complex CBX7-PRMT1 has a critical role in regulating E-cadherin gene expression and cell migration. Biochim Biophys Acta Gene Regul Mech 2019;1862:509-21. [PMID: 30826432 DOI: 10.1016/j.bbagrm.2019.02.006] [Cited by in Crossref: 10] [Cited by in F6Publishing: 13] [Article Influence: 3.3] [Reference Citation Analysis]
26 Srivastav R, Sharma R, Tandon S, Tandon C. Role of DHH superfamily proteins in nucleic acids metabolism and stress tolerance in prokaryotes and eukaryotes. Int J Biol Macromol 2019;127:66-75. [PMID: 30578903 DOI: 10.1016/j.ijbiomac.2018.12.123] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
27 Hartley JN, Simard LR, Ly V, Del Bigio MR, Frosk P. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. Am J Med Genet A 2019;179:206-18. [PMID: 30556349 DOI: 10.1002/ajmg.a.60690] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
28 Chitre M, Nahorski MS, Stouffer K, Dunning-davies B, Houston H, Wakeling EL, Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG. PEHO syndrome: the endpoint of different genetic epilepsies. J Med Genet 2018;55:803-13. [DOI: 10.1136/jmedgenet-2018-105288] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
29 Calhoun JD, Carvill GL. Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era. J Neurogenet 2018;32:295-312. [PMID: 30247086 DOI: 10.1080/01677063.2018.1513509] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
30 Arshad MW, Harlalka GV, Lin S, D'atri I, Mehmood S, Shakil M, Hassan MJ, Chioza BA, Self JE, Ennis S, O'gorman L, Norman C, Aman T, Ali SS, Kaul H, Baple EL, Crosby AH, Ullah MI, Shabbir MI. Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families. Meta Gene 2018;17:48-55. [DOI: 10.1016/j.mgene.2018.03.007] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
31 Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D. Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes. Eur J Paediatr Neurol 2018;22:1133-8. [PMID: 30100179 DOI: 10.1016/j.ejpn.2018.07.003] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.5] [Reference Citation Analysis]
32 Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. PRUNE1 ‐related disorder: Expanding the clinical spectrum. Clin Genet 2018;94:362-7. [DOI: 10.1111/cge.13385] [Cited by in Crossref: 4] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
33 Lasser M, Tiber J, Lowery LA. The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders. Front Cell Neurosci 2018;12:165. [PMID: 29962938 DOI: 10.3389/fncel.2018.00165] [Cited by in Crossref: 64] [Cited by in F6Publishing: 74] [Article Influence: 16.0] [Reference Citation Analysis]
34 Ferrucci V, Pennino FP, Siciliano R, Asadzadeh F, Zollo M. A competitive cell-permeable peptide impairs Nme-1 (NDPK-A) and Prune-1 interaction: therapeutic applications in cancer. Lab Invest 2018;98:571-81. [DOI: 10.1038/s41374-017-0011-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
35 Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. Mov Disord 2018;33:482-8. [PMID: 29392776 DOI: 10.1002/mds.27286] [Cited by in Crossref: 23] [Cited by in F6Publishing: 24] [Article Influence: 5.8] [Reference Citation Analysis]
36 Alfadhel M, Nashabat M, Hundallah K, Al Hashem A, Alrumayyan A, Tabarki B. PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review. Child Neurol Open 2018;5:2329048X17752237. [PMID: 29372174 DOI: 10.1177/2329048X17752237] [Cited by in Crossref: 5] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
37 Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F. Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. Eur J Paediatr Neurol 2018;22:541-3. [PMID: 29307700 DOI: 10.1016/j.ejpn.2017.12.005] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 1.2] [Reference Citation Analysis]
38 Baple EL, Houlden H, Zollo M, Crosby AH. Reply: PRUNE1: a disease-causing gene for secondary microcephaly. Brain 2017;140:e62. [PMID: 28969377 DOI: 10.1093/brain/awx199] [Reference Citation Analysis]
39 Bonini SA, Mastinu A, Ferrari-Toninelli G, Memo M. Potential Role of Microtubule Stabilizing Agents in Neurodevelopmental Disorders. Int J Mol Sci 2017;18:E1627. [PMID: 28933765 DOI: 10.3390/ijms18081627] [Cited by in Crossref: 19] [Cited by in F6Publishing: 15] [Article Influence: 3.8] [Reference Citation Analysis]
40 Anttonen A, Lehesjoki A. Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. Brain 2017;140:e50-e50. [DOI: 10.1093/brain/awx157] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]