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Summary Literature (80)
Literature for DOID 18: urinary system disease

Xenbase Articles :
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The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D,Cristóbal PS,Meade P,Moreno E,Vazquez N,Muñoz E,Díaz A,Juárez ME,Giménez I,Gamba G, J Biol Chem. September 29, 2006; 281(39):1083-351X.
WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability., Kahle KT,Rinehart J,de Los Heros P,Louvi A,Meade P,Vazquez N,Hebert SC,Gamba G,Gimenez I,Lifton RP, Proc Natl Acad Sci U S A. November 15, 2005; 102(46):1091-6490.
Functional evaluation of Dent''s disease-causing mutations: implications for ClC-5 channel trafficking and internalization., Ludwig M,Doroszewicz J,Seyberth HW,Bökenkamp A,Balluch B,Nuutinen M,Utsch B,Waldegger S, Hum Genet. July 1, 2005; 117(2-3):1432-1203.
WNK kinases and the control of blood pressure., Cope G,Golbang A,O'Shaughnessy KM, Pharmacol Ther. May 1, 2005; 106(2):0163-7258.
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways., Simons M,Gloy J,Ganner A,Bullerkotte A,Bashkurov M,Krönig C,Schermer B,Benzing T,Cabello OA,Jenny A,Mlodzik M,Polok B,Driever W,Obara T,Walz G, Nat Genet. May 1, 2005; 37(5):1546-1718.
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.
The amino acid transporter asc-1 is not involved in cystinuria., Pineda M,Font M,Bassi MT,Manzoni M,Borsani G,Marigo V,Fernández E,Río RM,Purroy J,Zorzano A,Nunes V,Palacín M, Kidney Int. October 1, 2004; 66(4):1523-1755.
Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum., Buck TM,Eledge J,Skach WR, Am J Physiol Cell Physiol. November 1, 2004; 287(5):1522-1563.
WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia., Kahle KT,Gimenez I,Hassan H,Wilson FH,Wong RD,Forbush B,Aronson PS,Lifton RP, Proc Natl Acad Sci U S A. February 17, 2004; 101(7):1091-6490.
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells., Rungroj N,Devonald MA,Cuthbert AW,Reimann F,Akkarapatumwong V,Yenchitsomanus PT,Bennett WM,Karet FE, J Biol Chem. April 2, 2004; 279(14):1083-351X.
Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa., Virkki LV,Forster IC,Hernando N,Biber J,Murer H, J Bone Miner Res. December 1, 2003; 18(12):0884-0431.
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus., Kamsteeg EJ,Bichet DG,Konings IB,Nivet H,Lonergan M,Arthus MF,van Os CH,Deen PM, J Cell Biol. December 8, 2003; 163(5):1540-8140.
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families., Lin SH,Bichet DG,Sasaki S,Kuwahara M,Arthus MF,Lonergan M,Lin YF, J Clin Endocrinol Metab. June 1, 2002; 87(6):0021-972X.
Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman''s syndrome., De Jong JC,Van Der Vliet WA,Van Den Heuvel LP,Willems PH,Knoers NV,Bindels RJ, J Am Soc Nephrol. June 1, 2002; 13(6):1533-3450.
Water transport across mammalian cell membranes., Verkman AS,van Hoek AN,Ma T,Frigeri A,Skach WR,Mitra A,Tamarappoo BK,Farinas J, Am J Physiol. January 1, 1996; 270(1 Pt 1):0002-9513.
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity., Hansson JH,Schild L,Lu Y,Wilson TA,Gautschi I,Shimkets R,Nelson-Williams C,Rossier BC,Lifton RP, Proc Natl Acad Sci U S A. December 5, 1995; 92(25):1091-6490.
Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel., McDonald FJ,Price MP,Snyder PM,Welsh MJ, Am J Physiol. May 1, 1995; 268(5 Pt 1):0002-9513.
The residues determining differences in ion affinities among the alternative splice variants F, A, and B of the mammalian renal Na-K-Cl cotransporter (NKCC2)., Giménez I,Forbush B, J Biol Chem. March 2, 2007; 282(9):1083-351X.
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin., Malakauskas SM,Quan H,Fields TA,McCall SJ,Yu MJ,Kourany WM,Frey CW,Le TH, Am J Physiol Renal Physiol. February 1, 2007; 292(2):1522-1466.
Species differences in Cl- affinity and in electrogenicity of SLC26A6-mediated oxalate/Cl- exchange correlate with the distinct human and mouse susceptibilities to nephrolithiasis., Clark JS,Vandorpe DH,Chernova MN,Heneghan JF,Stewart AK,Alper SL, J Physiol. March 1, 2008; 586(5):0022-3751.
A novel protein kinase signaling pathway essential for blood pressure regulation in humans., Kahle KT,Rinehart J,Giebisch G,Gamba G,Hebert SC,Lifton RP, Trends Endocrinol Metab. April 1, 2008; 19(3):1043-2760.
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.
Organization of the pronephric kidney revealed by large-scale gene expression mapping., Raciti D,Reggiani L,Geffers L,Jiang Q,Bacchion F,Subrizi AE,Clements D,Tindal C,Davidson DR,Kaissling B,Brändli AW, Genome Biol. January 1, 2008; 9(5):1474-760X.
Small molecule activator of the human epithelial sodium channel., Lu M,Echeverri F,Kalabat D,Laita B,Dahan DS,Smith RD,Xu H,Staszewski L,Yamamoto J,Ling J,Hwang N,Kimmich R,Li P,Patron E,Keung W,Patron A,Moyer BD, J Biol Chem. May 2, 2008; 283(18):1083-351X.
Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels., Lee CH,Lee CH,Lee CH,Huang PT,Lou KL,Liou HH, J Mol Graph Model. October 1, 2008; 27(3):1873-4243.
Genetic and physical interaction between the NPHP5 and NPHP6 gene products., Schäfer T,Pütz M,Lienkamp S,Ganner A,Bergbreiter A,Ramachandran H,Gieloff V,Gerner M,Mattonet C,Czarnecki PG,Sayer JA,Otto EA,Hildebrandt F,Kramer-Zucker A,Walz G, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.
Single-channel analysis of functional epithelial sodium channel (ENaC) stability at the apical membrane of A6 distal kidney cells., Yu L,Helms MN,Yue Q,Eaton DC, Am J Physiol Renal Physiol. November 1, 2008; 295(5):1522-1466.
Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene., Suga H,Nagasaki H,Kondo TA,Okajima Y,Suzuki C,Ozaki N,Arima H,Yamamoto T,Ozaki N,Akai M,Sato A,Uozumi N,Inoue M,Hasegawa M,Oiso Y, Endocrinology. November 1, 2008; 149(11):1945-7170.
The miR-30 miRNA family regulates Xenopus pronephros development and targets the transcription factor Xlim1/Lhx1., Agrawal R,Tran U,Wessely O, Development. December 1, 2009; 136(23):1477-9129.
Regulated transport of sulfate and oxalate by SLC26A2/DTDST., Heneghan JF,Akhavein A,Salas MJ,Shmukler BE,Karniski LP,Vandorpe DH,Alper SL, Am J Physiol Cell Physiol. June 1, 2010; 298(6):1522-1563.
A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels., Gradogna A,Babini E,Picollo A,Pusch M, J Gen Physiol. September 1, 2010; 136(3):1540-7748.
Proton block of the CLC-5 Cl-/H+ exchanger., Picollo A,Malvezzi M,Accardi A, J Gen Physiol. June 1, 2010; 135(6):1540-7748.
Inversin relays Frizzled-8 signals to promote proximal pronephros development., Lienkamp S,Ganner A,Boehlke C,Schmidt T,Arnold SJ,Schäfer T,Romaker D,Schuler J,Hoff S,Powelske C,Eifler A,Krönig C,Bullerkotte A,Nitschke R,Kuehn EW,Kim E,Burkhardt H,Brox T,Ronneberger O,Gloy J,Walz G, Proc Natl Acad Sci U S A. November 23, 2010; 107(47):1091-6490.
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function., Renigunta A,Renigunta V,Saritas T,Decher N,Mutig K,Waldegger S, J Biol Chem. January 21, 2011; 286(3):1083-351X.
ATP induces conformational changes in the carboxyl-terminal region of ClC-5., Wellhauser L,Luna-Chavez C,D'Antonio C,Tainer J,Bear CE, J Biol Chem. February 25, 2011; 286(8):1083-351X.
Functional and developmental expression of a zebrafish Kir1.1 (ROMK) potassium channel homologue Kcnj1., Abbas L,Hajihashemi S,Stead LF,Cooper GJ,Ware TL,Munsey TS,Whitfield TT,White SJ, J Physiol. March 15, 2011; 589(Pt 6):0022-3751.
Thiol-reactive compounds from garlic inhibit the epithelial sodium channel (ENaC)., Krumm P,Giraldez T,Alvarez de la Rosa D,Clauss WG,Fronius M,Althaus M, Bioorg Med Chem. July 1, 2012; 20(13):1464-3391.
Xenopus as a model system for the study of GOLPH2/GP73 function: Xenopus GOLPH2 is required for pronephros development., Li L,Wen L,Gong Y,Mei G,Liu J,Chen Y,Chen Y,Peng T, PLoS One. January 1, 2012; 7(6):1932-6203.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3., Hoff S,Halbritter J,Epting D,Frank V,Nguyen TM,van Reeuwijk J,Boehlke C,Schell C,Yasunaga T,Helmstädter M,Mergen M,Filhol E,Boldt K,Horn N,Ueffing M,Otto EA,Eisenberger T,Elting MW,van Wijk JA,Bockenhauer D,Sebire NJ,Rittig S,Vyberg M,Ring T,Pohl M,Pape L,Neuhaus TJ,Elshakhs NA,Koon SJ,Harris PC,Grahammer F,Huber TB,Kuehn EW,Kramer-Zucker A,Bolz HJ,Roepman R,Saunier S,Walz G,Hildebrandt F,Bergmann C,Lienkamp SS, Nat Genet. August 1, 2013; 45(8):1546-1718.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.
Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter''s syndrome and a functional analysis of their pathogenicity., Srivastava S,Li D,Edwards N,Hynes AM,Wood K,Al-Hamed M,Wroe AC,Reaich D,Moochhala SH,Welling PA,Sayer JA, Physiol Rep. November 1, 2013; 1(6):2051-817X.
Mammalian tribbles homologs at the crossroads of endoplasmic reticulum stress and Mammalian target of rapamycin pathways., Cunard R, Scientifica (Cairo). January 1, 2013; 2013:2090-908X.
Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3., McCormick JA,Yang CL,Zhang C,Davidge B,Blankenstein KI,Terker AS,Yarbrough B,Meermeier NP,Park HJ,McCully B,West M,Borschewski A,Himmerkus N,Bleich M,Bachmann S,Mutig K,Argaiz ER,Gamba G,Singer JD,Ellison DH, J Clin Invest. November 1, 2014; 124(11):1558-8238.
State-dependent network connectivity determines gating in a K+ channel., Bollepalli MK,Fowler PW,Rapedius M,Shang L,Sansom MS,Tucker SJ,Baukrowitz T, Structure. July 8, 2014; 22(7):1878-4186.
Feedback inhibition of ENaC: acute and chronic mechanisms., Patel AB,Yang L,Deng S,Palmer LG, Channels (Austin). January 1, 2014; 8(5):1933-6969.
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.
The Effect of WNK4 on the Na+-Cl- Cotransporter Is Modulated by Intracellular Chloride., Bazúa-Valenti S,Chávez-Canales M,Rojas-Vega L,González-Rodríguez X,Vázquez N,Rodríguez-Gama A,Argaiz ER,Melo Z,Plata C,Ellison DH,García-Valdés J,Hadchouel J,Gamba G, J Am Soc Nephrol. August 1, 2015; 26(8):1533-3450.
Using Xenopus to study genetic kidney diseases., Lienkamp SS, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
A pure chloride channel mutant of CLC-5 causes Dent''s disease via insufficient V-ATPase activation., Satoh N,Yamada H,Yamazaki O,Suzuki M,Suzuki M,Nakamura M,Suzuki A,Suzuki A,Ashida A,Yamamoto D,Kaku Y,Sekine T,Seki G,Horita S, Pflugers Arch. January 1, 2016; 468(7):1432-2013.
A novel mutant Na + /HCO3 - cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis., Myers EJ,Yuan L,Felmlee MA,Lin YY,Jiang Y,Pei Y,Wang O,Li M,Xing XP,Marshall A,Xia WB,Parker MD, J Physiol. January 1, 2016; 594(21):0022-3751.
ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation., Murthy M,Kurz T,O'Shaughnessy KM, Physiol Rep. July 1, 2016; 4(13):2051-817X.
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart., El Tarazi A,Lussier Y,Da Cal S,Bissonnette P,Bichet DG, Sci Rep. January 1, 2016; 6:2045-2322.
Toolbox in a tadpole: Xenopus for kidney research., Getwan M,Lienkamp SS, Cell Tissue Res. January 1, 2017; 369(1):1432-0878.
Clinical and Genetic Spectrum of Bartter Syndrome Type 3., Seys E,Andrini O,Keck M,Mansour-Hendili L,Courand PY,Simian C,Deschenes G,Kwon T,Bertholet-Thomas A,Bobrie G,Borde JS,Bourdat-Michel G,Decramer S,Cailliez M,Krug P,Cozette P,Delbet JD,Dubourg L,Chaveau D,Fila M,Jourde-Chiche N,Knebelmann B,Lavocat MP,Lemoine S,Djeddi D,Llanas B,Louillet F,Merieau E,Mileva M,Mota-Vieira L,Mousson C,Nobili F,Novo R,Roussey-Kesler G,Vrillon I,Walsh SB,Teulon J,Blanchard A,Vargas-Poussou R, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.
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.
TPX2-p53-GLIPR1 regulatory circuitry in cell proliferation, invasion, and tumor growth of bladder cancer., Yan L,Li Q,Yang J,Qiao B, J Cell Biochem. January 1, 2018; 119(2):0730-2312.
The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5., Wang L,Holmes RP,Peng JB, Biochem Biophys Res Commun. January 1, 2017; 492(3):1090-2104.
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification., Bignon Y,Alekov A,Frachon N,Lahuna O,Jean-Baptiste Doh-Egueli C,Deschênes G,Vargas-Poussou R,Lourdel S, Hum Mutat. January 1, 2018; 39(8):1098-1004.
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development., Hoff S,Epting D,Falk N,Schroda S,Braun DA,Halbritter J,Hildebrandt F,Kramer-Zucker A,Bergmann C,Walz G,Lienkamp SS, J Biol Chem. January 1, 2018; 293(39):1083-351X.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome., Braun DA,Lovric S,Schapiro D,Schneider R,Marquez J,Asif M,Hussain MS,Daga A,Widmeier E,Rao J,Ashraf S,Tan W,Lusk CP,Kolb A,Jobst-Schwan T,Schmidt JM,Hoogstraten CA,Eddy K,Kitzler TM,Shril S,Moawia A,Schrage K,Khayyat AIA,Lawson JA,Gee HY,Warejko JK,Hermle T,Majmundar AJ,Hugo H,Budde B,Motameny S,Altmüller J,Noegel AA,Fathy HM,Gale DP,Waseem SS,Khan A,Kerecuk L,Hashmi S,Mohebbi N,Ettenger R,Serdaroğlu E,Alhasan KA,Hashem M,Goncalves S,Ariceta G,Ubetagoyena M,Antonin W,Baig SM,Alkuraya FS,Shen Q,Xu H,Antignac C,Lifton RP,Mane S,Nürnberg P,Khokha MK,Hildebrandt F, J Clin Invest. January 1, 2018; 128(10):1558-8238.
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.
Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM,Miller RK, Dis Model Mech. January 1, 2019; 12(4):1754-8411.
Urokinase-type plasminogen activator (uPA) is not essential for epithelial sodium channel (ENaC)-mediated sodium retention in experimental nephrotic syndrome., Bohnert BN,Daiminger S,Wörn M,Sure F,Staudner T,Ilyaskin AV,Batbouta F,Janessa A,Schneider JC,Essigke D,Kanse S,Haerteis S,Korbmacher C,Artunc F, Acta Physiol (Oxf). January 1, 2019; 227(4):1748-1716.
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. January 1, 2019; 21(12):1530-0366.
Kidney-specific WNK1 isoform (KS-WNK1) is a potent activator of WNK4 and NCC., Argaiz ER,Chavez-Canales M,Ostrosky-Frid M,Rodríguez-Gama A,Vázquez N,Gonzalez-Rodriguez X,Garcia-Valdes J,Hadchouel J,Ellison D,Gamba G, Am J Physiol Renal Physiol. January 1, 2018; 315(3):1522-1466.
Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus., Saglar Ozer E,Moeller HB,Karaduman T,Fenton RA,Mergen H, Cell Mol Life Sci. March 1, 2020; 77(5):1420-9071.
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.
Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis., Corkins ME,Krneta-Stankic V,Kloc M,McCrea PD,Gladden AB,Miller RK, PLoS One. January 1, 2019; 14(8):1932-6203.
Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome., Bignon Y,Sakhi I,Bitam S,Bakouh N,Keck M,Frachon N,Paulais M,Planelles G,Teulon J,Andrini O, Hum Mutat. January 1, 2020; 41(4):1098-1004.
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. January 1, 2020; 147(21):1477-9129.
A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress., Tang W,Huang X,Liu Y,Lv Q,Li T,Song Y,Zhang X,Chen X,Shi Y,Shi Y, J Endocrinol Invest. March 1, 2021; 44(3):0391-4097.
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. January 1, 2020; 28(12):1476-5438.
Disruption of Cav1.2-mediated signaling is a pathway for ketamine-induced pathology., Chen H,Vandorpe DH,Xie X,Alper SL,Zeidel ML,Yu W, Nat Commun. January 1, 2020; 11(1):2041-1723.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., Schneider R,Deutsch K,Hoeprich GJ,Marquez J,Hermle T,Braun DA,Seltzsam S,Kitzler TM,Mao Y,Buerger F,Majmundar AJ,Onuchic-Whitford AC,Kolvenbach CM,Schierbaum L,Schneider S,Halawi AA,Nakayama M,Mann N,Connaughton DM,Klämbt V,Wagner M,Riedhammer KM,Renders L,Katsura Y,Thumkeo D,Soliman NA,Mane S,Lifton RP,Shril S,Khokha MK,Hoefele J,Goode BL,Hildebrandt F, Am J Hum Genet. January 1, 2020; 107(6):1537-6605.
Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. January 1, 2021; 59(1-2):1526-968X.
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes., Rao VG,Kulkarni SS, Genesis. January 1, 2021; 59(1-2):1526-968X.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome., Mann N,Mzoughi S,Schneider R,Kühl SJ,Schanze D,Klämbt V,Lovric S,Mao Y,Shi S,Tan W,Kühl M,Onuchic-Whitford AC,Treimer E,Kitzler TM,Kause F,Schumann S,Nakayama M,Buerger F,Shril S,van der Ven AT,Majmundar AJ,Holton KM,Kolb A,Braun DA,Rao J,Jobst-Schwan T,Mildenberger E,Lennert T,Kuechler A,Wieczorek D,Gross O,Ermisch-Omran B,Werberger A,Skalej M,Janecke AR,Soliman NA,Mane SM,Lifton RP,Kadlec J,Guccione E,Schmeisser MJ,Zenker M,Hildebrandt F, J Am Soc Nephrol. January 1, 2021; 32(3):1533-3450.
A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts., Grosch M,Brunner K,Ilyaskin AV,Schober M,Staudner T,Schmied D,Stumpp T,Schmidt KN,Madej MG,Pessoa TD,Othmen H,Kubitza M,Osten L,de Vries U,Mair MM,Somlo S,Moser M,Kunzelmann K,Ziegler C,Haerteis S,Korbmacher C,Witzgall R, J Cell Sci. August 15, 2021; 134(16):1477-9137.
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. January 1, 2021; 118(39):1091-6490.
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia., Yoon J,Cachau R,David VA,Thompson M,Jung W,Jee SH,Daar IO,Winkler CA,Cho SK, Biomedicines. September 6, 2021; 9(9):2227-9059.