congenital nervous system abnormality

Literature (25)

Literature for DOID 2490: congenital nervous system abnormality

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

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A critical role of Pax6 in alcohol-induced fetal microcephaly., Peng Y,Yang PH,Ng SS,Wong OG,Liu J,He ML,Kung HF,Lin MC, Neurobiol Dis. July 1, 2004; 16(2):1095-953X.
Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives., Inoue T,Hatayama M,Tohmonda T,Itohara S,Aruga J,Mikoshiba K, Dev Biol. June 1, 2004; 270(1):1095-564X.
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features., Roessler E,Du YZ,Mullor JL,Casas E,Allen WP,Gillessen-Kaesbach G,Roeder ER,Ming JE,Ruiz i Altaba A,Muenke M, Proc Natl Acad Sci U S A. November 11, 2003; 100(23):1091-6490.
Condensins: universal organizers of chromosomes with diverse functions., Hirano T, Genes Dev. August 1, 2012; 26(15):1549-5477.
Simple and efficient CRISPR/Cas9-mediated targeted mutagenesis in Xenopus tropicalis., Nakayama T,Fish MB,Fisher M,Oomen-Hajagos J,Thomsen GH,Grainger RM, Genesis. December 1, 2013; 51(12):1526-968X.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Nosip functions during vertebrate eye and cranial cartilage development., Flach H,Krieg J,Hoffmeister M,Dietmann P,Reusch A,Wischmann L,Kernl B,Riegger R,Oess S,Kühl SJ, Dev Dyn. September 1, 2018; 247(9):1058-8388.
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.
Structural basis of HEAT-kleisin interactions in the human condensin I subcomplex., Hara K,Kinoshita K,Migita T,Murakami K,Shimizu K,Takeuchi K,Hirano T,Hashimoto H, EMBO Rep. May 1, 2019; 20(5):1469-3178.
Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis., Mills A,Bearce E,Cella R,Kim SW,Selig M,Lee S,Lowery LA, Front Physiol. January 1, 2019; 10:1664-042X.
Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation., Graham JB,Sunryd JC,Mathavan K,Weir E,Larsen ISB,Halim A,Clausen H,Cousin H,Alfandari D,Alfandari D,Hebert DN, Mol Biol Cell. February 1, 2020; 31(3):1939-4586.
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.
The Stemness Gene Mex3A Is a Key Regulator of Neuroblast Proliferation During Neurogenesis., Naef V,De Sarlo M,Testa G,Corsinovi D,Azzarelli R,Borello U,Ori M, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.
Neural tube closure requires the endocytic receptor Lrp2 and its functional interaction with intracellular scaffolds., Kowalczyk I,Lee C,Lee C,Lee C,Schuster E,Hoeren J,Trivigno V,Riedel L,Görne J,Wallingford JB,Hammes A,Feistel K, Development. January 26, 2021; 148(2):1477-9129.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.
Function of chromatin modifier Hmgn1 during neural crest and craniofacial development., Ihewulezi C,Saint-Jeannet JP, Genesis. October 1, 2021; 59(10):1526-968X.
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.
16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M,Bolduc J,Murphy L,O'Brien C,Lee S,Girirajan S,Lowery LA, Front Genet. January 1, 2022; 13:1664-8021.
Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.
Prdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis., Saumweber E,Mzoughi S,Khadra A,Werberger A,Schumann S,Guccione E,Schmeisser MJ,Kühl SJ, Front Cell Dev Biol. January 1, 2024; 12:2296-634X.
Dyrk1a is required for craniofacial development in Xenopus laevis., Johnson HK,Wahl SE,Sesay F,Litovchick L,Dickinson AJ, Dev Biol. July 1, 2024; 511:1095-564X.

A critical role of Pax6 in alcohol-induced fetal microcephaly., Peng Y,Yang PH,Ng SS,Wong OG,Liu J,He ML,Kung HF,Lin MC, Neurobiol Dis. July 1, 2004; 16(2):1095-953X.

Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives., Inoue T,Hatayama M,Tohmonda T,Itohara S,Aruga J,Mikoshiba K, Dev Biol. June 1, 2004; 270(1):1095-564X.

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features., Roessler E,Du YZ,Mullor JL,Casas E,Allen WP,Gillessen-Kaesbach G,Roeder ER,Ming JE,Ruiz i Altaba A,Muenke M, Proc Natl Acad Sci U S A. November 11, 2003; 100(23):1091-6490.

Condensins: universal organizers of chromosomes with diverse functions., Hirano T, Genes Dev. August 1, 2012; 26(15):1549-5477.

Simple and efficient CRISPR/Cas9-mediated targeted mutagenesis in Xenopus tropicalis., Nakayama T,Fish MB,Fisher M,Oomen-Hajagos J,Thomsen GH,Grainger RM, Genesis. December 1, 2013; 51(12):1526-968X.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.

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

Nosip functions during vertebrate eye and cranial cartilage development., Flach H,Krieg J,Hoffmeister M,Dietmann P,Reusch A,Wischmann L,Kernl B,Riegger R,Oess S,Kühl SJ, Dev Dyn. September 1, 2018; 247(9):1058-8388.

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.

Structural basis of HEAT-kleisin interactions in the human condensin I subcomplex., Hara K,Kinoshita K,Migita T,Murakami K,Shimizu K,Takeuchi K,Hirano T,Hashimoto H, EMBO Rep. May 1, 2019; 20(5):1469-3178.

Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis., Mills A,Bearce E,Cella R,Kim SW,Selig M,Lee S,Lowery LA, Front Physiol. January 1, 2019; 10:1664-042X.

Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation., Graham JB,Sunryd JC,Mathavan K,Weir E,Larsen ISB,Halim A,Clausen H,Cousin H,Alfandari D,Alfandari D,Hebert DN, Mol Biol Cell. February 1, 2020; 31(3):1939-4586.

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.

The Stemness Gene Mex3A Is a Key Regulator of Neuroblast Proliferation During Neurogenesis., Naef V,De Sarlo M,Testa G,Corsinovi D,Azzarelli R,Borello U,Ori M, Front Cell Dev Biol. January 1, 2020; 8:2296-634X.

Neural tube closure requires the endocytic receptor Lrp2 and its functional interaction with intracellular scaffolds., Kowalczyk I,Lee C,Lee C,Lee C,Schuster E,Hoeren J,Trivigno V,Riedel L,Görne J,Wallingford JB,Hammes A,Feistel K, Development. January 26, 2021; 148(2):1477-9129.

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.

Function of chromatin modifier Hmgn1 during neural crest and craniofacial development., Ihewulezi C,Saint-Jeannet JP, Genesis. October 1, 2021; 59(10):1526-968X.

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.

16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M,Bolduc J,Murphy L,O'Brien C,Lee S,Girirajan S,Lowery LA, Front Genet. January 1, 2022; 13:1664-8021.

Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.

Prdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis., Saumweber E,Mzoughi S,Khadra A,Werberger A,Schumann S,Guccione E,Schmeisser MJ,Kühl SJ, Front Cell Dev Biol. January 1, 2024; 12:2296-634X.

Dyrk1a is required for craniofacial development in Xenopus laevis., Johnson HK,Wahl SE,Sesay F,Litovchick L,Dickinson AJ, Dev Biol. July 1, 2024; 511:1095-564X.