CAKUT

Summary

Literature (8)

Literature for DOID 0080205: CAKUT

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

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Denotes literature images)

Using Xenopus to study genetic kidney diseases., Lienkamp SS, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling., Vivante A,Mann N,Yonath H,Weiss AC,Getwan M,Kaminski MM,Bohnenpoll T,Teyssier C,Chen J,Shril S,van der Ven AT,Ityel H,Schmidt JM,Widmeier E,Bauer SB,Sanna-Cherchi S,Gharavi AG,Lu W,Magen D,Shukrun R,Lifton RP,Tasic V,Stanescu HC,Cavaillès V,Kleta R,Anikster Y,Dekel B,Kispert A,Lienkamp SS,Hildebrandt F, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.
Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM,Miller RK, Dis Model Mech. April 9, 2019; 12(4):1754-8411.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract., Blackburn ATM,Bekheirnia N,Uma VC,Corkins ME,Xu Y,Xu Y,Rosenfeld JA,Bainbridge MN,Yang Y,Yang Y,Liu P,Madan-Khetarpal S,Delgado MR,Hudgins L,Krantz I,Rodriguez-Buritica D,Wheeler PG,Al-Gazali L,Mohamed Saeed Mohamed Al Shamsi A,Gomez-Ospina N,Chao HT,Mirzaa GM,Scheuerle AE,Kukolich MK,Scaglia F,Eng C,Willsey HR,Braun MC,Lamb DJ,Miller RK,Bekheirnia MR, Genet Med. December 1, 2019; 21(12):1530-0366.
Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis., Hwang WY,Marquez J,Khokha MK, Front Physiol. January 1, 2019; 10:1664-042X.
Rare heterozygous GDF6 variants in patients with renal anomalies., Martens H,Hennies I,Getwan M,Christians A,Weiss AC,Brand F,Gjerstad AC,Christians A,Gucev Z,Geffers R,Seeman T,Kispert A,Tasic V,Bjerre A,Lienkamp SS,Haffner D,Weber RG, Eur J Hum Genet. December 1, 2020; 28(12):1476-5438.
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.
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes., Grand K,Stoltz M,Rizzo L,Röck R,Kaminski MM,Salinas G,Getwan M,Naert T,Pichler R,Lienkamp SS, J Am Soc Nephrol. March 1, 2023; 34(3):1533-3450.

Using Xenopus to study genetic kidney diseases., Lienkamp SS, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling., Vivante A,Mann N,Yonath H,Weiss AC,Getwan M,Kaminski MM,Bohnenpoll T,Teyssier C,Chen J,Shril S,van der Ven AT,Ityel H,Schmidt JM,Widmeier E,Bauer SB,Sanna-Cherchi S,Gharavi AG,Lu W,Magen D,Shukrun R,Lifton RP,Tasic V,Stanescu HC,Cavaillès V,Kleta R,Anikster Y,Dekel B,Kispert A,Lienkamp SS,Hildebrandt F, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.

Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM,Miller RK, Dis Model Mech. April 9, 2019; 12(4):1754-8411.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract., Blackburn ATM,Bekheirnia N,Uma VC,Corkins ME,Xu Y,Xu Y,Rosenfeld JA,Bainbridge MN,Yang Y,Yang Y,Liu P,Madan-Khetarpal S,Delgado MR,Hudgins L,Krantz I,Rodriguez-Buritica D,Wheeler PG,Al-Gazali L,Mohamed Saeed Mohamed Al Shamsi A,Gomez-Ospina N,Chao HT,Mirzaa GM,Scheuerle AE,Kukolich MK,Scaglia F,Eng C,Willsey HR,Braun MC,Lamb DJ,Miller RK,Bekheirnia MR, Genet Med. December 1, 2019; 21(12):1530-0366.

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis., Hwang WY,Marquez J,Khokha MK, Front Physiol. January 1, 2019; 10:1664-042X.

Rare heterozygous GDF6 variants in patients with renal anomalies., Martens H,Hennies I,Getwan M,Christians A,Weiss AC,Brand F,Gjerstad AC,Christians A,Gucev Z,Geffers R,Seeman T,Kispert A,Tasic V,Bjerre A,Lienkamp SS,Haffner D,Weber RG, Eur J Hum Genet. December 1, 2020; 28(12):1476-5438.

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.

HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes., Grand K,Stoltz M,Rizzo L,Röck R,Kaminski MM,Salinas G,Getwan M,Naert T,Pichler R,Lienkamp SS, J Am Soc Nephrol. March 1, 2023; 34(3):1533-3450.