pervasive developmental disorder

Literature (34)

Literature for DOID 0060040: pervasive developmental disorder

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Rett syndrome: clinical review and genetic update., Weaving LS,Ellaway CJ,Gécz J,Christodoulou J, J Med Genet. January 1, 2005; 42(1):1468-6244.
Functional significance of the kainate receptor GluR6(M836I) mutation that is linked to autism., Strutz-Seebohm N,Korniychuk G,Schwarz R,Baltaev R,Ureche ON,Mack AF,Ma ZL,Hollmann M,Lang F,Seebohm G, Cell Physiol Biochem. January 1, 2006; 18(4-5):1421-9778.
Microtransplantation of neurotransmitter receptors from postmortem autistic brains to Xenopus oocytes., Limon A,Reyes-Ruiz JM,Miledi R, Proc Natl Acad Sci U S A. August 5, 2008; 105(31):1091-6490.
Modeling human neurodevelopmental disorders in the Xenopus tadpole: from mechanisms to therapeutic targets., Pratt KG,Khakhalin AS, Dis Model Mech. September 1, 2013; 6(5):1754-8411.
Valproate-induced neurodevelopmental deficits in Xenopus laevis tadpoles., James EJ,Gu J,Ramirez-Vizcarrondo CM,Hasan M,Truszkowski TL,Tan Y,Oupravanh PM,Khakhalin AS,Aizenman CD, J Neurosci. February 18, 2015; 35(7):1529-2401.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype., Ambrosini E,Sicca F,Brignone MS,D'Adamo MC,Napolitano C,Servettini I,Moro F,Ruan Y,Guglielmi L,Pieroni S,Servillo G,Lanciotti A,Valvo G,Catacuzzeno L,Franciolini F,Molinari P,Marchese M,Grottesi A,Guerrini R,Santorelli FM,Priori S,Pessia M, Hum Mol Genet. September 15, 2014; 23(18):1460-2083.
Fragile X mental retardation protein knockdown in the developing Xenopus tadpole optic tectum results in enhanced feedforward inhibition and behavioral deficits., Truszkowski TL,James EJ,Hasan M,Wishard TJ,Liu Z,Pratt KG,Cline HT,Aizenman CD, Neural Dev. August 8, 2016; 11(1):1749-8104.
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy., Sicca F,Ambrosini E,Marchese M,Sforna L,Servettini I,Valvo G,Brignone MS,Lanciotti A,Moro F,Grottesi A,Catacuzzeno L,Baldini S,Hasan S,D'Adamo MC,Franciolini F,Molinari P,Santorelli FM,Pessia M, Sci Rep. September 28, 2016; 6:2045-2322.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos., Willsey HR,Walentek P,Exner CRT,Xu Y,Xu Y,Lane AB,Harland RM,Heald R,Santama N, Dev Biol. October 15, 2018; 442(2):1095-564X.
HCN2 Rescues brain defects by enforcing endogenous voltage pre-patterns., Pai VP,Pietak A,Willocq V,Ye B,Shi NQ,Levin M, Nat Commun. March 8, 2018; 9(1):2041-1723.
Rare Diseases of Neurodevelopment: Maintain the Mystery or Use a Dazzling Tool for Investigation? The Case of Rett Syndrome., Ruffolo G,Cifelli P,Miranda-Lourenço C,De Felice E,Limatola C,Sebastião AM,Diógenes MJ,Aronica E,Palma E, Neuroscience. July 15, 2020; 439:1873-7544.
NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models., Singh MD,Jensen M,Lasser M,Huber E,Yusuff T,Pizzo L,Lifschutz B,Desai I,Kubina A,Yennawar S,Kim S,Iyer J,Rincon-Limas DE,Lowery LA,Girirajan S, PLoS Genet. February 13, 2020; 16(2):1553-7404.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders., Barbosa S,Greville-Heygate S,Bonnet M,Godwin A,Fagotto-Kaufmann C,Kajava AV,Laouteouet D,Mawby R,Wai HA,Dingemans AJM,Hehir-Kwa J,Willems M,Capri Y,Mehta SG,Cox H,Goudie D,Vansenne F,Turnpenny P,Vincent M,Cogné B,Lesca G,Hertecant J,Rodriguez D,Keren B,Burglen L,Gérard M,Putoux A,Cantagrel V,Siquier-Pernet K,Rio M,Banka S,Sarkar A,Steeves M,Parker M,Clement E,Moutton S,Tran Mau-Them F,Piton A,de Vries BBA,Guille M,Debant A,Schmidt S,Baralle D, Am J Hum Genet. March 5, 2020; 106(3):1537-6605.
The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR,Xu Y,Xu Y,Everitt A,Dea J,Exner CRT,Willsey AJ,State MW,Harland RM, Development. June 22, 2020; 147(21):1477-9129.
MiR-9 and the Midbrain-Hindbrain Boundary: A Showcase for the Limited Functional Conservation and Regulatory Complexity of MicroRNAs., Alwin Prem Anand A,Alvarez-Bolado G,Wizenmann A, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.
Xenopus leads the way: Frogs as a pioneering model to understand the human brain., Exner CRT,Willsey HR, Genesis. February 1, 2021; 59(1-2):1526-968X.
Rab11fip5 regulates telencephalon development via ephrinB1 recycling., Yoon J,Garo J,Lee M,Sun J,Hwang YS,Daar IO, Development. February 2, 2021; 148(3):1477-9129.
Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience., Willsey HR,Exner CRT,Xu Y,Xu Y,Everitt A,Sun N,Wang B,Dea J,Schmunk G,Zaltsman Y,Teerikorpi N,Kim A,Anderson AS,Shin D,Seyler M,Nowakowski TJ,Harland RM,Willsey AJ,State MW, Neuron. March 3, 2021; 109(5):0896-6273.
Dissecting the Molecular Determinants of GABAA Receptors Current Rundown, a Hallmark of Refractory Human Epilepsy., Cifelli P,Di Angelantonio S,Alfano V,Morano A,De Felice E,Aronica E,Ruffolo G,Palma E, Brain Sci. March 30, 2021; 11(4):2076-3425.
Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.
Early Developmental Exposure to Fluoxetine and Citalopram Results in Different Neurodevelopmental Outcomes., Liu K,Garcia A,Park JJ,Toliver AA,Ramos L,Aizenman CD, Neuroscience. July 15, 2021; 467:1873-7544.
Role of matrix metalloproteinase-9 in neurodevelopmental deficits and experience-dependent plasticity in Xenopus laevis., Gore SV,James EJ,Huang LC,Park JJ,Berghella A,Thompson AC,Cline HT,Aizenman CD, Elife. July 20, 2021; 10:2050-084X.
A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB,Willsey HR,Xu Y,Xu Y,Mei Y,Dea J,Wang S,Curtis C,Sempou E,Khokha MK,Chi NC,Willsey AJ,Fisch KM,Ideker T, Cell Syst. November 17, 2021; 12(11):2405-4720.
A role for zinc transporter gene SLC39A12 in the nervous system and beyond., Davis DN,Strong MD,Chambers E,Hart MD,Bettaieb A,Clarke SL,Smith BJ,Stoecker BJ,Lucas EA,Lin D,Chowanadisai W, Gene. October 5, 2021; 799:1879-0038.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity., Pavinato L,Nematian-Ardestani E,Zonta A,De Rubeis S,Buxbaum J,Mancini C,Bruselles A,Tartaglia M,Pessia M,Tucker SJ,D'Adamo MC,Brusco A, Int J Mol Sci. June 4, 2021; 22(11):1422-0067.
Discovery of Dihydropyrrolo[1,2-a]pyrazin-3(4H)-one-Based Second-Generation GluN2C- and GluN2D-Selective Positive Allosteric Modulators (PAMs) of the N-Methyl-d-Aspartate (NMDA) Receptor., Epplin MP,Mohan A,Harris LD,Zhu Z,Strong KL,Bacsa J,Le P,Menaldino DS,Traynelis SF,Liotta DC, J Med Chem. July 23, 2020; 63(14):1520-4804.
The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.
Deep learning is widely applicable to phenotyping embryonic development and disease., Naert T,Çiçek Ö,Ogar P,Bürgi M,Shaidani NI,Kaminski MM,Xu Y,Xu Y,Grand K,Vujanovic M,Prata D,Hildebrandt F,Brox T,Ronneberger O,Voigt FF,Helmchen F,Loffing J,Horb ME,Willsey HR,Lienkamp SS, Development. November 1, 2021; 148(21):1477-9129.
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.
Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels., Edmond MA,Hinojo-Perez A,Wu X,Perez Rodriguez ME,Barro-Soria R, Elife. June 1, 2022; 11:2050-084X.
The H2A.Z and NuRD associated protein HMG20A controls early head and heart developmental transcription programs., Herchenröther A,Gossen S,Friedrich T,Reim A,Daus N,Diegmüller F,Leers J,Sani HM,Gerstner S,Schwarz L,Stellmacher I,Szymkowiak LV,Nist A,Stiewe T,Borggrefe T,Mann M,Mackay JP,Bartkuhn M,Borchers A,Lan J,Hake SB, Nat Commun. January 28, 2023; 14(1):2041-1723.
Pleiotropy of autism-associated chromatin regulators., Lasser M,Sun N,Xu Y,Xu Y,Wang S,Drake S,Law K,Gonzalez S,Wang B,Drury V,Castillo O,Zaltsman Y,Dea J,Bader E,McCluskey KE,State MW,Willsey AJ,Willsey HR, Development. July 15, 2023; 150(14):1477-9129.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK,Allington G,Viviano S,McGee S,Kiziltug E,Ma S,Zhao S,Mekbib KY,Shohfi JP,Duy PQ,DeSpenza T,Furey CG,Reeves BC,Smith H,Sousa AMM,Cherskov A,Allocco A,Nelson-Williams C,Haider S,Rizvi SRA,Alper SL,Sestan N,Shimelis H,Walsh LK,Lifton RP,Moreno-De-Luca A,Jin SC,Kruszka P,Deniz E,Kahle KT, Brain. April 4, 2024; 147(4):1460-2156.

Rett syndrome: clinical review and genetic update., Weaving LS,Ellaway CJ,Gécz J,Christodoulou J, J Med Genet. January 1, 2005; 42(1):1468-6244.

Functional significance of the kainate receptor GluR6(M836I) mutation that is linked to autism., Strutz-Seebohm N,Korniychuk G,Schwarz R,Baltaev R,Ureche ON,Mack AF,Ma ZL,Hollmann M,Lang F,Seebohm G, Cell Physiol Biochem. January 1, 2006; 18(4-5):1421-9778.

Microtransplantation of neurotransmitter receptors from postmortem autistic brains to Xenopus oocytes., Limon A,Reyes-Ruiz JM,Miledi R, Proc Natl Acad Sci U S A. August 5, 2008; 105(31):1091-6490.

Modeling human neurodevelopmental disorders in the Xenopus tadpole: from mechanisms to therapeutic targets., Pratt KG,Khakhalin AS, Dis Model Mech. September 1, 2013; 6(5):1754-8411.

Valproate-induced neurodevelopmental deficits in Xenopus laevis tadpoles., James EJ,Gu J,Ramirez-Vizcarrondo CM,Hasan M,Truszkowski TL,Tan Y,Oupravanh PM,Khakhalin AS,Aizenman CD, J Neurosci. February 18, 2015; 35(7):1529-2401.

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype., Ambrosini E,Sicca F,Brignone MS,D'Adamo MC,Napolitano C,Servettini I,Moro F,Ruan Y,Guglielmi L,Pieroni S,Servillo G,Lanciotti A,Valvo G,Catacuzzeno L,Franciolini F,Molinari P,Marchese M,Grottesi A,Guerrini R,Santorelli FM,Priori S,Pessia M, Hum Mol Genet. September 15, 2014; 23(18):1460-2083.

Fragile X mental retardation protein knockdown in the developing Xenopus tadpole optic tectum results in enhanced feedforward inhibition and behavioral deficits., Truszkowski TL,James EJ,Hasan M,Wishard TJ,Liu Z,Pratt KG,Cline HT,Aizenman CD, Neural Dev. August 8, 2016; 11(1):1749-8104.

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy., Sicca F,Ambrosini E,Marchese M,Sforna L,Servettini I,Valvo G,Brignone MS,Lanciotti A,Moro F,Grottesi A,Catacuzzeno L,Baldini S,Hasan S,D'Adamo MC,Franciolini F,Molinari P,Santorelli FM,Pessia M, Sci Rep. September 28, 2016; 6:2045-2322.

Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.

Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos., Willsey HR,Walentek P,Exner CRT,Xu Y,Xu Y,Lane AB,Harland RM,Heald R,Santama N, Dev Biol. October 15, 2018; 442(2):1095-564X.

HCN2 Rescues brain defects by enforcing endogenous voltage pre-patterns., Pai VP,Pietak A,Willocq V,Ye B,Shi NQ,Levin M, Nat Commun. March 8, 2018; 9(1):2041-1723.

Rare Diseases of Neurodevelopment: Maintain the Mystery or Use a Dazzling Tool for Investigation? The Case of Rett Syndrome., Ruffolo G,Cifelli P,Miranda-Lourenço C,De Felice E,Limatola C,Sebastião AM,Diógenes MJ,Aronica E,Palma E, Neuroscience. July 15, 2020; 439:1873-7544.

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models., Singh MD,Jensen M,Lasser M,Huber E,Yusuff T,Pizzo L,Lifschutz B,Desai I,Kubina A,Yennawar S,Kim S,Iyer J,Rincon-Limas DE,Lowery LA,Girirajan S, PLoS Genet. February 13, 2020; 16(2):1553-7404.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders., Barbosa S,Greville-Heygate S,Bonnet M,Godwin A,Fagotto-Kaufmann C,Kajava AV,Laouteouet D,Mawby R,Wai HA,Dingemans AJM,Hehir-Kwa J,Willems M,Capri Y,Mehta SG,Cox H,Goudie D,Vansenne F,Turnpenny P,Vincent M,Cogné B,Lesca G,Hertecant J,Rodriguez D,Keren B,Burglen L,Gérard M,Putoux A,Cantagrel V,Siquier-Pernet K,Rio M,Banka S,Sarkar A,Steeves M,Parker M,Clement E,Moutton S,Tran Mau-Them F,Piton A,de Vries BBA,Guille M,Debant A,Schmidt S,Baralle D, Am J Hum Genet. March 5, 2020; 106(3):1537-6605.

The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR,Xu Y,Xu Y,Everitt A,Dea J,Exner CRT,Willsey AJ,State MW,Harland RM, Development. June 22, 2020; 147(21):1477-9129.

MiR-9 and the Midbrain-Hindbrain Boundary: A Showcase for the Limited Functional Conservation and Regulatory Complexity of MicroRNAs., Alwin Prem Anand A,Alvarez-Bolado G,Wizenmann A, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.

Xenopus leads the way: Frogs as a pioneering model to understand the human brain., Exner CRT,Willsey HR, Genesis. February 1, 2021; 59(1-2):1526-968X.

Rab11fip5 regulates telencephalon development via ephrinB1 recycling., Yoon J,Garo J,Lee M,Sun J,Hwang YS,Daar IO, Development. February 2, 2021; 148(3):1477-9129.

Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience., Willsey HR,Exner CRT,Xu Y,Xu Y,Everitt A,Sun N,Wang B,Dea J,Schmunk G,Zaltsman Y,Teerikorpi N,Kim A,Anderson AS,Shin D,Seyler M,Nowakowski TJ,Harland RM,Willsey AJ,State MW, Neuron. March 3, 2021; 109(5):0896-6273.

Dissecting the Molecular Determinants of GABAA Receptors Current Rundown, a Hallmark of Refractory Human Epilepsy., Cifelli P,Di Angelantonio S,Alfano V,Morano A,De Felice E,Aronica E,Ruffolo G,Palma E, Brain Sci. March 30, 2021; 11(4):2076-3425.

Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.

Early Developmental Exposure to Fluoxetine and Citalopram Results in Different Neurodevelopmental Outcomes., Liu K,Garcia A,Park JJ,Toliver AA,Ramos L,Aizenman CD, Neuroscience. July 15, 2021; 467:1873-7544.

Role of matrix metalloproteinase-9 in neurodevelopmental deficits and experience-dependent plasticity in Xenopus laevis., Gore SV,James EJ,Huang LC,Park JJ,Berghella A,Thompson AC,Cline HT,Aizenman CD, Elife. July 20, 2021; 10:2050-084X.

A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB,Willsey HR,Xu Y,Xu Y,Mei Y,Dea J,Wang S,Curtis C,Sempou E,Khokha MK,Chi NC,Willsey AJ,Fisch KM,Ideker T, Cell Syst. November 17, 2021; 12(11):2405-4720.

A role for zinc transporter gene SLC39A12 in the nervous system and beyond., Davis DN,Strong MD,Chambers E,Hart MD,Bettaieb A,Clarke SL,Smith BJ,Stoecker BJ,Lucas EA,Lin D,Chowanadisai W, Gene. October 5, 2021; 799:1879-0038.

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity., Pavinato L,Nematian-Ardestani E,Zonta A,De Rubeis S,Buxbaum J,Mancini C,Bruselles A,Tartaglia M,Pessia M,Tucker SJ,D'Adamo MC,Brusco A, Int J Mol Sci. June 4, 2021; 22(11):1422-0067.

Discovery of Dihydropyrrolo[1,2-a]pyrazin-3(4H)-one-Based Second-Generation GluN2C- and GluN2D-Selective Positive Allosteric Modulators (PAMs) of the N-Methyl-d-Aspartate (NMDA) Receptor., Epplin MP,Mohan A,Harris LD,Zhu Z,Strong KL,Bacsa J,Le P,Menaldino DS,Traynelis SF,Liotta DC, J Med Chem. July 23, 2020; 63(14):1520-4804.

The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.

Deep learning is widely applicable to phenotyping embryonic development and disease., Naert T,Çiçek Ö,Ogar P,Bürgi M,Shaidani NI,Kaminski MM,Xu Y,Xu Y,Grand K,Vujanovic M,Prata D,Hildebrandt F,Brox T,Ronneberger O,Voigt FF,Helmchen F,Loffing J,Horb ME,Willsey HR,Lienkamp SS, Development. November 1, 2021; 148(21):1477-9129.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.

Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels., Edmond MA,Hinojo-Perez A,Wu X,Perez Rodriguez ME,Barro-Soria R, Elife. June 1, 2022; 11:2050-084X.

The H2A.Z and NuRD associated protein HMG20A controls early head and heart developmental transcription programs., Herchenröther A,Gossen S,Friedrich T,Reim A,Daus N,Diegmüller F,Leers J,Sani HM,Gerstner S,Schwarz L,Stellmacher I,Szymkowiak LV,Nist A,Stiewe T,Borggrefe T,Mann M,Mackay JP,Bartkuhn M,Borchers A,Lan J,Hake SB, Nat Commun. January 28, 2023; 14(1):2041-1723.

Pleiotropy of autism-associated chromatin regulators., Lasser M,Sun N,Xu Y,Xu Y,Wang S,Drake S,Law K,Gonzalez S,Wang B,Drury V,Castillo O,Zaltsman Y,Dea J,Bader E,McCluskey KE,State MW,Willsey AJ,Willsey HR, Development. July 15, 2023; 150(14):1477-9129.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus., Singh AK,Allington G,Viviano S,McGee S,Kiziltug E,Ma S,Zhao S,Mekbib KY,Shohfi JP,Duy PQ,DeSpenza T,Furey CG,Reeves BC,Smith H,Sousa AMM,Cherskov A,Allocco A,Nelson-Williams C,Haider S,Rizvi SRA,Alper SL,Sestan N,Shimelis H,Walsh LK,Lifton RP,Moreno-De-Luca A,Jin SC,Kruszka P,Deniz E,Kahle KT, Brain. April 4, 2024; 147(4):1460-2156.