X-linked monogenic disease

Literature (14)

Literature for DOID 0050735: X-linked monogenic disease

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

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AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development., Lim JH,Booker AB,Luo T,Williams T,Furuta Y,Lagutin O,Oliver G,Sargent TD,Fallon JR, Hum Mol Genet. July 15, 2005; 14(14):1460-2083.
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements., Wang YH,Griffith J, Genomics. January 20, 1995; 25(2):1089-8646.
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing., Naranjo S,Voesenek K,de la Calle-Mustienes E,Robert-Moreno A,Kokotas H,Grigoriadou M,Economides J,Van Camp G,Hilgert N,Moreno F,Alsina B,Petersen MB,Kremer H,Gómez-Skarmeta JL, Hum Genet. October 1, 2010; 128(4):1432-1203.
Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus., Xu S,Cheng F,Liang J,Wu W,Zhang J, PLoS Biol. January 1, 2012; 10(3):1545-7885.
The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling., Iwasaki Y,Thomsen GH, Development. October 1, 2014; 141(19):1477-9129.
Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones., Braun D,Schweizer U, Endocrinology. December 1, 2015; 156(12):1945-7170.
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.
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females., Palmer EE,Stuhlmann T,Weinert S,Haan E,Van Esch H,Holvoet M,Boyle J,Leffler M,Raynaud M,Moraine C,van Bokhoven H,Kleefstra T,Kahrizi K,Najmabadi H,Ropers HH,Delgado MR,Sirsi D,Golla S,Sommer A,Pietryga MP,Chung WK,Wynn J,Rohena L,Bernardo E,Hamlin D,Faux BM,Grange DK,Manwaring L,Tolmie J,Joss S,Cobben JM,Duijkers FAM,Goehringer JM,Challman TD,Hennig F,Fischer U,Grimme A,Suckow V,Musante L,Nicholl J,Shaw M,Lodh SP,Niu Z,Rosenfeld JA,Stankiewicz P,Jentsch TJ,Gecz J,Field M,Kalscheuer VM, Mol Psychiatry. February 1, 2018; 23(2):1476-5578.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.
Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature., Daste F,Walrant A,Holst MR,Gadsby JR,Mason J,Lee JE,Lee JE,Lee JE,Brook D,Mettlen M,Larsson E,Lee SF,Lundmark R,Gallop JL, J Cell Biol. November 6, 2017; 216(11):1540-8140.
CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.
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.
Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H,Okano H, Regen Ther. August 24, 2021; 18:2352-3204.
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.

AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development., Lim JH,Booker AB,Luo T,Williams T,Furuta Y,Lagutin O,Oliver G,Sargent TD,Fallon JR, Hum Mol Genet. July 15, 2005; 14(14):1460-2083.

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements., Wang YH,Griffith J, Genomics. January 20, 1995; 25(2):1089-8646.

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing., Naranjo S,Voesenek K,de la Calle-Mustienes E,Robert-Moreno A,Kokotas H,Grigoriadou M,Economides J,Van Camp G,Hilgert N,Moreno F,Alsina B,Petersen MB,Kremer H,Gómez-Skarmeta JL, Hum Genet. October 1, 2010; 128(4):1432-1203.

Maternal xNorrin, a canonical Wnt signaling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus., Xu S,Cheng F,Liang J,Wu W,Zhang J, PLoS Biol. January 1, 2012; 10(3):1545-7885.

The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling., Iwasaki Y,Thomsen GH, Development. October 1, 2014; 141(19):1477-9129.

Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones., Braun D,Schweizer U, Endocrinology. December 1, 2015; 156(12):1945-7170.

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.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females., Palmer EE,Stuhlmann T,Weinert S,Haan E,Van Esch H,Holvoet M,Boyle J,Leffler M,Raynaud M,Moraine C,van Bokhoven H,Kleefstra T,Kahrizi K,Najmabadi H,Ropers HH,Delgado MR,Sirsi D,Golla S,Sommer A,Pietryga MP,Chung WK,Wynn J,Rohena L,Bernardo E,Hamlin D,Faux BM,Grange DK,Manwaring L,Tolmie J,Joss S,Cobben JM,Duijkers FAM,Goehringer JM,Challman TD,Hennig F,Fischer U,Grimme A,Suckow V,Musante L,Nicholl J,Shaw M,Lodh SP,Niu Z,Rosenfeld JA,Stankiewicz P,Jentsch TJ,Gecz J,Field M,Kalscheuer VM, Mol Psychiatry. February 1, 2018; 23(2):1476-5578.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.

Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature., Daste F,Walrant A,Holst MR,Gadsby JR,Mason J,Lee JE,Lee JE,Lee JE,Brook D,Mettlen M,Larsson E,Lee SF,Lundmark R,Gallop JL, J Cell Biol. November 6, 2017; 216(11):1540-8140.

CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.

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.

Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H,Okano H, Regen Ther. August 24, 2021; 18:2352-3204.

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.