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10.1093/ndt/gfaa215 http://scihub22266oqcxt.onion/10.1093/ndt/gfaa215 33097957!7834595!33097957     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nephrol+Dial+Transplant 2021 ; 36 (2): 237-246 Nephropedia Template TP {{tp|p=33097957|t=2021. Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans |pdf=|usr=}}{{33097957}} gab.com Text Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans JO: Nephrol Dial Transplant http://www.kidney.de/pget.php?&tw=1&pmid=33097957 #FOAvip BACKGROUND: An underlying monogenic cause of early-onset chronic kidney disease (CKD) can be detected in approximately 20% of individuals. For many etiologies of CKD manifesting before 25 years of age, >200 monogenic causative genes have been identified to date, leading to the elucidation of mechanisms of renal pathogenesis. METHODS: In 51 families with echogenic kidneys and CKD, we performed whole-exome sequencing to identify novel monogenic causes of CKD. RESULTS: We discovered a homozygous truncating mutation in the transcription factor gene transcription factor CP2-like 1 (TFCP2L1) in an Arabic patient of consanguineous descent. The patient developed CKD by the age of 2 months and had episodes of severe hypochloremic, hyponatremic and hypokalemic alkalosis, seizures, developmental delay and hypotonia together with cataracts. We found that TFCP2L1 was localized throughout kidney development particularly in the distal nephron. Interestingly, TFCP2L1 induced the growth and development of renal tubules from rat mesenchymal cells. Conversely, the deletion of TFCP2L1 in mice was previously shown to lead to reduced expression of renal cell markers including ion transporters and cell identity proteins expressed in different segments of the distal nephron. TFCP2L1 localized to the nucleus in HEK293T cells only upon coexpression with its paralog upstream-binding protein 1 (UBP1). A TFCP2L1 mutant complementary DNA (cDNA) clone that represented the patient's mutation failed to form homo- and heterodimers with UBP1, an essential step for its transcriptional activity. CONCLUSION: Here, we identified a loss-of-function TFCP2L1 mutation as a potential novel cause of CKD in childhood accompanied by a salt-losing tubulopathy. Twit Text FOAVip Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans ????Nephrol Dial Transplant http://www.kidney.de/pget.php?&tw=1&pmid=33097957 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=33097957 #FOAvip English Wikipedia <ref>{{Cite pmid|33097957}}</ref> Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans #MMPMID33097957 Klambt V; Werth M; Onuchic-Whitford AC; Getwan M; Kitzler TM; Buerger F; Mao Y; Deutsch K; Mann N; Majmundar AJ; Kaminski MM; Shen T; Schmidt-Ott KM; Shalaby M; El Desoky S; Kari JA; Shril S; Lienkamp SS; Barasch J; Hildebrandt F Nephrol Dial Transplant 2021[Jan]; 36 (2): 237-246 PMID33097957show ga BACKGROUND: An underlying monogenic cause of early-onset chronic kidney disease (CKD) can be detected in approximately 20% of individuals. For many etiologies of CKD manifesting before 25 years of age, >200 monogenic causative genes have been identified to date, leading to the elucidation of mechanisms of renal pathogenesis. METHODS: In 51 families with echogenic kidneys and CKD, we performed whole-exome sequencing to identify novel monogenic causes of CKD. RESULTS: We discovered a homozygous truncating mutation in the transcription factor gene transcription factor CP2-like 1 (TFCP2L1) in an Arabic patient of consanguineous descent. The patient developed CKD by the age of 2 months and had episodes of severe hypochloremic, hyponatremic and hypokalemic alkalosis, seizures, developmental delay and hypotonia together with cataracts. We found that TFCP2L1 was localized throughout kidney development particularly in the distal nephron. Interestingly, TFCP2L1 induced the growth and development of renal tubules from rat mesenchymal cells. Conversely, the deletion of TFCP2L1 in mice was previously shown to lead to reduced expression of renal cell markers including ion transporters and cell identity proteins expressed in different segments of the distal nephron. TFCP2L1 localized to the nucleus in HEK293T cells only upon coexpression with its paralog upstream-binding protein 1 (UBP1). A TFCP2L1 mutant complementary DNA (cDNA) clone that represented the patient's mutation failed to form homo- and heterodimers with UBP1, an essential step for its transcriptional activity. CONCLUSION: Here, we identified a loss-of-function TFCP2L1 mutation as a potential novel cause of CKD in childhood accompanied by a salt-losing tubulopathy. |*Epithelial-Mesenchymal Transition[MESH] |*Mutation[MESH] |Animals[MESH] |Child[MESH] |DNA-Binding Proteins/genetics/metabolism[MESH] |Exome Sequencing[MESH] |Female[MESH] |HEK293 Cells[MESH] |Humans[MESH] |Kidney Diseases/*etiology/metabolism/pathology[MESH] |Mice[MESH] |Mice, Knockout[MESH] |Rats[MESH] |Repressor Proteins/*genetics/metabolism[MESH] |Single-Cell Analysis[MESH]Mutations in transcription factor CP2-like 1 may cause a novel syndrom(epmc).pdf DeepDyve Pubget Overpricing