bone development disease

Literature (23)

Literature for DOID 0080006: bone development disease

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

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Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX., Blaschke RJ,Töpfer C,Marchini A,Steinbeisser H,Janssen JW,Rappold GA, J Biol Chem. November 28, 2003; 278(48):1083-351X.
Hedgehog signaling in gastrointestinal development and disease., Harmon EB,Ko AH,Kim SK, Curr Mol Med. February 1, 2002; 2(1):1875-5666.
Point mutations in human GLI3 cause Greig syndrome., Wild A,Kalff-Suske M,Vortkamp A,Bornholdt D,König R,Grzeschik KH, Hum Mol Genet. October 1, 1997; 6(11):1460-2083.
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force., Loukin S,Zhou X,Zhou X,Su Z,Saimi Y,Kung C, J Biol Chem. August 27, 2010; 285(35):1083-351X.
Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens., Hudson DM,Weis M,Eyre DR, PLoS One. May 3, 2011; 6(5):1932-6203.
Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing., De Domenico E,Owens ND,Grant IM,Gomes-Faria R,Gilchrist MJ, Dev Biol. December 15, 2015; 408(2):1095-564X.
A channelopathy mechanism revealed by direct calmodulin activation of TrpV4., Loukin SH,Teng J,Kung C, Proc Natl Acad Sci U S A. July 28, 2015; 112(30):1091-6490.
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome., Devotta A,Juraver-Geslin H,Gonzalez JA,Hong CS,Saint-Jeannet JP, Dev Biol. July 15, 2016; 415(2):1095-564X.
Sox9 function in craniofacial development and disease., Lee YH,Lee YH,Saint-Jeannet JP, Genesis. April 1, 2011; 49(4):1526-968X.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
Mouth development., Chen J,Jacox LA,Saldanha F,Sive H, Wiley Interdiscip Rev Dev Biol. September 1, 2017; 6(5):1759-7692.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome., Johnston JJ,Lee C,Lee C,Lee C,Wentzensen IM,Parisi MA,Crenshaw MM,Sapp JC,Gross JM,Wallingford JB,Biesecker LG, Cold Spring Harb Mol Case Stud. July 1, 2017; 3(4):2373-2873.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6., Szenker-Ravi E,Altunoglu U,Leushacke M,Bosso-Lefèvre C,Khatoo M,Thi Tran H,Naert T,Noelanders R,Hajamohideen A,Beneteau C,de Sousa SB,Karaman B,Latypova X,Başaran S,Yücel EB,Tan TT,Vlaminck L,Nayak SS,Shukla A,Girisha KM,Le Caignec C,Soshnikova N,Uyguner ZO,Vleminckx K,Vleminckx K,Barker N,Kayserili H,Reversade B, Nature. May 1, 2018; 557(7706):0143-5221.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia., Kariminejad A,Szenker-Ravi E,Lekszas C,Tajsharghi H,Moslemi AR,Naert T,Tran HT,Ahangari F,Rajaei M,Nasseri M,Haaf T,Azad A,Superti-Furga A,Maroofian R,Ghaderi-Sohi S,Najmabadi H,Abbaszadegan MR,Vleminckx K,Vleminckx K,Nikuei P,Reversade B, Am J Hum Genet. December 5, 2019; 105(6):1537-6605.
FAM46B is a prokaryotic-like cytoplasmic poly(A) polymerase essential in human embryonic stem cells., Hu JL,Liang H,Zhang H,Yang MZ,Sun W,Zhang P,Luo L,Feng JX,Bai H,Liu F,Zhang T,Yang JY,Gao Q,Long Y,Ma XY,Chen Y,Chen Y,Zhong Q,Yu B,Liao S,Wang Y,Zhao Y,Zeng MS,Cao N,Wang J,Chen W,Yang HT,Gao S, Nucleic Acids Res. March 18, 2020; 48(5):1362-4962.
Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.
Molecular mechanisms of hearing loss in Nager syndrome., Maharana SK,Saint-Jeannet JP, Dev Biol. August 1, 2021; 476:1095-564X.
Function of chromatin modifier Hmgn1 during neural crest and craniofacial development., Ihewulezi C,Saint-Jeannet JP, Genesis. October 1, 2021; 59(10):1526-968X.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.
Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease., Coppenrath K,Tavares ALP,Shaidani NI,Wlizla M,Moody SA,Horb M, Genesis. December 1, 2021; 59(12):1526-968X.
The Ubiquitin Ligase TRAIP: Double-Edged Sword at the Replisome., Wu RA,Pellman DS,Walter JC, Trends Cell Biol. February 1, 2021; 31(2):1879-3088.
Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution., Hossain N,Igawa T,Suzuki M,Suzuki M,Tazawa I,Nakao Y,Hayashi T,Suzuki N,Ogino H, Dev Growth Differ. October 1, 2023; 65(8):1440-169X.
The structural mechanism of dimeric DONSON in replicative helicase activation., Cvetkovic MA,Passaretti P,Butryn A,Reynolds-Winczura A,Kingsley G,Skagia A,Fernandez-Cuesta C,Poovathumkadavil D,George R,Chauhan AS,Jhujh SS,Stewart GS,Gambus A,Costa A, Mol Cell. November 16, 2023; 83(22):1097-4164.

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX., Blaschke RJ,Töpfer C,Marchini A,Steinbeisser H,Janssen JW,Rappold GA, J Biol Chem. November 28, 2003; 278(48):1083-351X.

Hedgehog signaling in gastrointestinal development and disease., Harmon EB,Ko AH,Kim SK, Curr Mol Med. February 1, 2002; 2(1):1875-5666.

Point mutations in human GLI3 cause Greig syndrome., Wild A,Kalff-Suske M,Vortkamp A,Bornholdt D,König R,Grzeschik KH, Hum Mol Genet. October 1, 1997; 6(11):1460-2083.

Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force., Loukin S,Zhou X,Zhou X,Su Z,Saimi Y,Kung C, J Biol Chem. August 27, 2010; 285(35):1083-351X.

Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens., Hudson DM,Weis M,Eyre DR, PLoS One. May 3, 2011; 6(5):1932-6203.

Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing., De Domenico E,Owens ND,Grant IM,Gomes-Faria R,Gilchrist MJ, Dev Biol. December 15, 2015; 408(2):1095-564X.

A channelopathy mechanism revealed by direct calmodulin activation of TrpV4., Loukin SH,Teng J,Kung C, Proc Natl Acad Sci U S A. July 28, 2015; 112(30):1091-6490.

Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome., Devotta A,Juraver-Geslin H,Gonzalez JA,Hong CS,Saint-Jeannet JP, Dev Biol. July 15, 2016; 415(2):1095-564X.

Sox9 function in craniofacial development and disease., Lee YH,Lee YH,Saint-Jeannet JP, Genesis. April 1, 2011; 49(4):1526-968X.

Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.

Mouth development., Chen J,Jacox LA,Saldanha F,Sive H, Wiley Interdiscip Rev Dev Biol. September 1, 2017; 6(5):1759-7692.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome., Johnston JJ,Lee C,Lee C,Lee C,Wentzensen IM,Parisi MA,Crenshaw MM,Sapp JC,Gross JM,Wallingford JB,Biesecker LG, Cold Spring Harb Mol Case Stud. July 1, 2017; 3(4):2373-2873.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6., Szenker-Ravi E,Altunoglu U,Leushacke M,Bosso-Lefèvre C,Khatoo M,Thi Tran H,Naert T,Noelanders R,Hajamohideen A,Beneteau C,de Sousa SB,Karaman B,Latypova X,Başaran S,Yücel EB,Tan TT,Vlaminck L,Nayak SS,Shukla A,Girisha KM,Le Caignec C,Soshnikova N,Uyguner ZO,Vleminckx K,Vleminckx K,Barker N,Kayserili H,Reversade B, Nature. May 1, 2018; 557(7706):0143-5221.

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia., Kariminejad A,Szenker-Ravi E,Lekszas C,Tajsharghi H,Moslemi AR,Naert T,Tran HT,Ahangari F,Rajaei M,Nasseri M,Haaf T,Azad A,Superti-Furga A,Maroofian R,Ghaderi-Sohi S,Najmabadi H,Abbaszadegan MR,Vleminckx K,Vleminckx K,Nikuei P,Reversade B, Am J Hum Genet. December 5, 2019; 105(6):1537-6605.

FAM46B is a prokaryotic-like cytoplasmic poly(A) polymerase essential in human embryonic stem cells., Hu JL,Liang H,Zhang H,Yang MZ,Sun W,Zhang P,Luo L,Feng JX,Bai H,Liu F,Zhang T,Yang JY,Gao Q,Long Y,Ma XY,Chen Y,Chen Y,Zhong Q,Yu B,Liao S,Wang Y,Zhao Y,Zeng MS,Cao N,Wang J,Chen W,Yang HT,Gao S, Nucleic Acids Res. March 18, 2020; 48(5):1362-4962.

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

Molecular mechanisms of hearing loss in Nager syndrome., Maharana SK,Saint-Jeannet JP, Dev Biol. August 1, 2021; 476:1095-564X.

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

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.

Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease., Coppenrath K,Tavares ALP,Shaidani NI,Wlizla M,Moody SA,Horb M, Genesis. December 1, 2021; 59(12):1526-968X.

The Ubiquitin Ligase TRAIP: Double-Edged Sword at the Replisome., Wu RA,Pellman DS,Walter JC, Trends Cell Biol. February 1, 2021; 31(2):1879-3088.

Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution., Hossain N,Igawa T,Suzuki M,Suzuki M,Tazawa I,Nakao Y,Hayashi T,Suzuki N,Ogino H, Dev Growth Differ. October 1, 2023; 65(8):1440-169X.

The structural mechanism of dimeric DONSON in replicative helicase activation., Cvetkovic MA,Passaretti P,Butryn A,Reynolds-Winczura A,Kingsley G,Skagia A,Fernandez-Cuesta C,Poovathumkadavil D,George R,Chauhan AS,Jhujh SS,Stewart GS,Gambus A,Costa A, Mol Cell. November 16, 2023; 83(22):1097-4164.