visceral heterotaxy

Literature (34)

Literature for DOID 0050545: visceral heterotaxy

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

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The role of ZIC3 in vertebrate development., Herman GE,El-Hodiri HM, Cytogenet Genome Res. January 1, 2002; 99(1-4):1424-859X.
Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease., Kathiriya IS,Srivastava D, Am J Med Genet. January 1, 2000; 97(4):0148-7299.
Molecular mechanisms of vertebrate left-right development., Ramsdell AF,Yost HJ, Trends Genet. November 1, 1998; 14(11):0168-9525.
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia., Bergmann C,Fliegauf M,Brüchle NO,Frank V,Olbrich H,Kirschner J,Schermer B,Schmedding I,Kispert A,Kränzlin B,Nürnberg G,Becker C,Grimm T,Girschick G,Lynch SA,Kelehan P,Senderek J,Neuhaus TJ,Stallmach T,Zentgraf H,Nürnberg P,Gretz N,Lo C,Lienkamp S,Schäfer T,Walz G,Benzing T,Zerres K,Omran H, Am J Hum Genet. April 1, 2008; 82(4):1537-6605.
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning., Fakhro KA,Choi M,Ware SM,Belmont JW,Towbin JA,Lifton RP,Khokha MK,Brueckner M, Proc Natl Acad Sci U S A. February 15, 2011; 108(7):1091-6490.
An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis., Cast AE,Gao C,Amack JD,Ware SM, Dev Biol. April 1, 2012; 364(1):1095-564X.
Embryonic exposure to propylthiouracil disrupts left-right patterning in Xenopus embryos., van Veenendaal NR,Ulmer B,Boskovski MT,Fang X,Khokha MK,Wendler CC,Blum M,Rivkees SA, FASEB J. February 1, 2013; 27(2):1530-6860.
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT,Yuan S,Pedersen NB,Goth CK,Makova S,Clausen H,Brueckner M,Khokha MK, Nature. December 19, 2013; 504(7480):0143-5221.
The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry., Endicott SJ,Basu B,Khokha M,Brueckner M, Development. December 1, 2015; 142(23):1477-9129.
CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus., Bhattacharya D,Marfo CA,Li D,Lane M,Khokha MK, Dev Biol. December 15, 2015; 408(2):1095-564X.
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry., Silva E,Betleja E,John E,Spear P,Moresco JJ,Zhang S,Yates JR,Mitchell BJ,Mahjoub MR, Mol Biol Cell. January 1, 2016; 27(1):1939-4586.
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR,Khokha MK, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F,Huang F,Myers J,Chalfant M,Zhang Y,Zhang Y,Reza N,Bewersdorf J,Lusk CP,Khokha MK, Dev Cell. September 12, 2016; 38(5):1878-1551.
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects., Cowan JR,Tariq M,Shaw C,Rao M,Belmont JW,Lalani SR,Smolarek TA,Ware SM, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.
From cytoskeletal dynamics to organ asymmetry: a nonlinear, regulative pathway underlies left-right patterning., McDowell G,Rajadurai S,Levin M, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.
Xenopus, an ideal model organism to study laterality in conjoined twins., Tisler M,Schweickert A,Blum M, Genesis. January 1, 2017; 55(1-2):1526-968X.
Leftward Flow Determines Laterality in Conjoined Twins., Tisler M,Thumberger T,Schneider I,Schweickert A,Blum M, Curr Biol. February 20, 2017; 27(4):0960-9822.
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography., Deniz E,Jonas S,Hooper M,N Griffin J,Choma MA,Khokha MK, Sci Rep. February 14, 2017; 7:2045-2322.
Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans., Gur M,Cohen EB,Genin O,Fainsod A,Perles Z,Cinnamon Y, Int J Dev Biol. January 1, 2017; 61(3-4-5):1696-3547.
An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease., Garfinkel AM,Khokha MK, Curr Pathobiol Rep. June 1, 2017; 5(2):2167-485X.
Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways., Sigg MA,Menchen T,Lee C,Lee C,Lee C,Johnson J,Jungnickel MK,Choksi SP,Garcia G,Busengdal H,Dougherty GW,Pennekamp P,Werner C,Rentzsch F,Florman HM,Krogan N,Wallingford JB,Omran H,Reiter JF, Dev Cell. December 18, 2017; 43(6):1878-1551.
A Conserved Role of the Unconventional Myosin 1d in Laterality Determination., Tingler M,Kurz S,Maerker M,Ott T,Fuhl F,Schweickert A,LeBlanc-Straceski JM,Noselli S,Blum M, Curr Biol. March 5, 2018; 28(5):0960-9822.
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.
WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation., Kulkarni SS,Griffin JN,Date PP,Liem KF,Khokha MK, Dev Cell. September 10, 2018; 46(5):1878-1551.
WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS,Khokha MK, Development. November 28, 2018; 145(23):1477-9129.
Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus., Sempou E,Lakhani OA,Amalraj S,Khokha MK, Front Physiol. January 1, 2018; 9:1664-042X.
Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling., Duncan AR,González DP,Del Viso F,Robson A,Khokha MK,Griffin JN, Dev Biol. December 1, 2019; 456(1):1095-564X.
CFAP43 modulates ciliary beating in mouse and Xenopus., Rachev E,Schuster-Gossler K,Fuhl F,Ott T,Tveriakhina L,Beckers A,Hegermann J,Boldt K,Mai M,Kremmer E,Ueffing M,Blum M,Gossler A, Dev Biol. March 15, 2020; 459(2):1095-564X.
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes., Rao VG,Kulkarni SS, Genesis. February 1, 2021; 59(1-2):1526-968X.
RNA demethylation by FTO stabilizes the FOXJ1 mRNA for proper motile ciliogenesis., Kim H,Lee YS,Lee YS,Kim SM,Jang S,Choi H,Lee JW,Lee JW,Kim TD,Kim VN, Dev Cell. April 19, 2021; 56(8):1878-1551.
Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.
Altering metabolite distribution at Xenopus cleavage stages affects left-right gene expression asymmetries., Onjiko RM,Nemes P,Moody SA, Genesis. June 1, 2021; 59(5-6):1526-968X.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates., Szenker-Ravi E,Ott T,Khatoo M,Moreau de Bellaing A,Goh WX,Chong YL,Beckers A,Kannesan D,Louvel G,Anujan P,Ravi V,Bonnard C,Moutton S,Schoen P,Fradin M,Colin E,Megarbane A,Daou L,Chehab G,Di Filippo S,Rooryck C,Deleuze JF,Boland A,Arribard N,Eker R,Tohari S,Ng AY,Rio M,Lim CT,Eisenhaber B,Eisenhaber F,Venkatesh B,Amiel J,Crollius HR,Gordon CT,Gossler A,Roy S,Attie-Bitach T,Blum M,Bouvagnet P,Reversade B, Nat Genet. January 1, 2022; 54(1):1546-1718.
Developmental regulation of cellular metabolism is required for intestinal elongation and rotation., Grzymkowski JK,Chiu YC,Jima DD,Wyatt BH,Jayachandran S,Stutts WL,Nascone-Yoder NM, Development. February 15, 2024; 151(4):1477-9129.

The role of ZIC3 in vertebrate development., Herman GE,El-Hodiri HM, Cytogenet Genome Res. January 1, 2002; 99(1-4):1424-859X.

Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease., Kathiriya IS,Srivastava D, Am J Med Genet. January 1, 2000; 97(4):0148-7299.

Molecular mechanisms of vertebrate left-right development., Ramsdell AF,Yost HJ, Trends Genet. November 1, 1998; 14(11):0168-9525.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia., Bergmann C,Fliegauf M,Brüchle NO,Frank V,Olbrich H,Kirschner J,Schermer B,Schmedding I,Kispert A,Kränzlin B,Nürnberg G,Becker C,Grimm T,Girschick G,Lynch SA,Kelehan P,Senderek J,Neuhaus TJ,Stallmach T,Zentgraf H,Nürnberg P,Gretz N,Lo C,Lienkamp S,Schäfer T,Walz G,Benzing T,Zerres K,Omran H, Am J Hum Genet. April 1, 2008; 82(4):1537-6605.

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning., Fakhro KA,Choi M,Ware SM,Belmont JW,Towbin JA,Lifton RP,Khokha MK,Brueckner M, Proc Natl Acad Sci U S A. February 15, 2011; 108(7):1091-6490.

An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis., Cast AE,Gao C,Amack JD,Ware SM, Dev Biol. April 1, 2012; 364(1):1095-564X.

Embryonic exposure to propylthiouracil disrupts left-right patterning in Xenopus embryos., van Veenendaal NR,Ulmer B,Boskovski MT,Fang X,Khokha MK,Wendler CC,Blum M,Rivkees SA, FASEB J. February 1, 2013; 27(2):1530-6860.

The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT,Yuan S,Pedersen NB,Goth CK,Makova S,Clausen H,Brueckner M,Khokha MK, Nature. December 19, 2013; 504(7480):0143-5221.

The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry., Endicott SJ,Basu B,Khokha M,Brueckner M, Development. December 1, 2015; 142(23):1477-9129.

CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus., Bhattacharya D,Marfo CA,Li D,Lane M,Khokha MK, Dev Biol. December 15, 2015; 408(2):1095-564X.

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry., Silva E,Betleja E,John E,Spear P,Moresco JJ,Zhang S,Yates JR,Mitchell BJ,Mahjoub MR, Mol Biol Cell. January 1, 2016; 27(1):1939-4586.

Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR,Khokha MK, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F,Huang F,Myers J,Chalfant M,Zhang Y,Zhang Y,Reza N,Bewersdorf J,Lusk CP,Khokha MK, Dev Cell. September 12, 2016; 38(5):1878-1551.

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects., Cowan JR,Tariq M,Shaw C,Rao M,Belmont JW,Lalani SR,Smolarek TA,Ware SM, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.

From cytoskeletal dynamics to organ asymmetry: a nonlinear, regulative pathway underlies left-right patterning., McDowell G,Rajadurai S,Levin M, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.

Xenopus, an ideal model organism to study laterality in conjoined twins., Tisler M,Schweickert A,Blum M, Genesis. January 1, 2017; 55(1-2):1526-968X.

Leftward Flow Determines Laterality in Conjoined Twins., Tisler M,Thumberger T,Schneider I,Schweickert A,Blum M, Curr Biol. February 20, 2017; 27(4):0960-9822.

Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography., Deniz E,Jonas S,Hooper M,N Griffin J,Choma MA,Khokha MK, Sci Rep. February 14, 2017; 7:2045-2322.

Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans., Gur M,Cohen EB,Genin O,Fainsod A,Perles Z,Cinnamon Y, Int J Dev Biol. January 1, 2017; 61(3-4-5):1696-3547.

An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease., Garfinkel AM,Khokha MK, Curr Pathobiol Rep. June 1, 2017; 5(2):2167-485X.

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways., Sigg MA,Menchen T,Lee C,Lee C,Lee C,Johnson J,Jungnickel MK,Choksi SP,Garcia G,Busengdal H,Dougherty GW,Pennekamp P,Werner C,Rentzsch F,Florman HM,Krogan N,Wallingford JB,Omran H,Reiter JF, Dev Cell. December 18, 2017; 43(6):1878-1551.

A Conserved Role of the Unconventional Myosin 1d in Laterality Determination., Tingler M,Kurz S,Maerker M,Ott T,Fuhl F,Schweickert A,LeBlanc-Straceski JM,Noselli S,Blum M, Curr Biol. March 5, 2018; 28(5):0960-9822.

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.

WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation., Kulkarni SS,Griffin JN,Date PP,Liem KF,Khokha MK, Dev Cell. September 10, 2018; 46(5):1878-1551.

WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS,Khokha MK, Development. November 28, 2018; 145(23):1477-9129.

Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus., Sempou E,Lakhani OA,Amalraj S,Khokha MK, Front Physiol. January 1, 2018; 9:1664-042X.

Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling., Duncan AR,González DP,Del Viso F,Robson A,Khokha MK,Griffin JN, Dev Biol. December 1, 2019; 456(1):1095-564X.

CFAP43 modulates ciliary beating in mouse and Xenopus., Rachev E,Schuster-Gossler K,Fuhl F,Ott T,Tveriakhina L,Beckers A,Hegermann J,Boldt K,Mai M,Kremmer E,Ueffing M,Blum M,Gossler A, Dev Biol. March 15, 2020; 459(2):1095-564X.

Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes., Rao VG,Kulkarni SS, Genesis. February 1, 2021; 59(1-2):1526-968X.

RNA demethylation by FTO stabilizes the FOXJ1 mRNA for proper motile ciliogenesis., Kim H,Lee YS,Lee YS,Kim SM,Jang S,Choi H,Lee JW,Lee JW,Kim TD,Kim VN, Dev Cell. April 19, 2021; 56(8):1878-1551.

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

Altering metabolite distribution at Xenopus cleavage stages affects left-right gene expression asymmetries., Onjiko RM,Nemes P,Moody SA, Genesis. June 1, 2021; 59(5-6):1526-968X.

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates., Szenker-Ravi E,Ott T,Khatoo M,Moreau de Bellaing A,Goh WX,Chong YL,Beckers A,Kannesan D,Louvel G,Anujan P,Ravi V,Bonnard C,Moutton S,Schoen P,Fradin M,Colin E,Megarbane A,Daou L,Chehab G,Di Filippo S,Rooryck C,Deleuze JF,Boland A,Arribard N,Eker R,Tohari S,Ng AY,Rio M,Lim CT,Eisenhaber B,Eisenhaber F,Venkatesh B,Amiel J,Crollius HR,Gordon CT,Gossler A,Roy S,Attie-Bitach T,Blum M,Bouvagnet P,Reversade B, Nat Genet. January 1, 2022; 54(1):1546-1718.

Developmental regulation of cellular metabolism is required for intestinal elongation and rotation., Grzymkowski JK,Chiu YC,Jima DD,Wyatt BH,Jayachandran S,Stutts WL,Nascone-Yoder NM, Development. February 15, 2024; 151(4):1477-9129.