Results 121 to 130 of about 1,877 (178)

Response to the Letter to the Editor Entitled "From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M". [PDF]

Kidney Int Rep
König JC, Dahmer-Heath M, Konrad M.
europepmc   +1 more source

Calpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis. [PDF]

Mol Med
Li D, Zhang J, Su X, Yang Y, Lai J, Wei X, Chen H, Liu Y, Wang H, Sun L.   +9 more
europepmc   +1 more source

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study. [PDF]

Clin J Am Soc Nephrol
Bozkurt EG, Sheikh Najeeb M, Yang H, Kemppainen JL, Smith BH, Gregory AV, Baker TA, Thompson WS, Khalifa M, Cruz C, Kouri AM, Tran CL, Sas DJ, Cramer CH, Dahl NK, Kline TL, Torres VE, Chebib FT, Harris PC, Hanna C.   +19 more
europepmc   +1 more source

Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoids. [PDF]

J Cell Sci
Whiting KR, Aslanyan MG, van Summeren L, Beyer T, Dahlke K, Theil T, Boldt K, Roepman R.   +7 more
europepmc   +1 more source

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management. [PDF]

Biomolecules
Zhou D, Zeng Y, Luo W, Leng C, Li C.
europepmc   +1 more source

Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing. [PDF]

Prenat Diagn
Mossayebi MH, Adams SJ, Bunnell ME, Guseh SH, Wilkins-Haug LE.   +4 more
europepmc   +1 more source

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture. [PDF]

Nat Commun
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Bruel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB.   +29 more
europepmc   +1 more source

Granulomatous nephropathy: have you thought about genetics? [PDF]

Pediatr Nephrol
Vedrine E, Bessenay L, Philipponnet C, Dancer M, Bertholet-Thomas A.   +4 more
europepmc   +1 more source

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis. [PDF]

Pediatr Nephrol
Hellmann C, Wohlgemuth K, Pennekamp P, George S, Dahmer-Heath M, Konrad M, Omran H, König J, NEOCYST Consortium.   +8 more
europepmc   +1 more source

A case report of atypical autosomal dominant polycystic kidney disease presenting as glomerulocystic kidney superimposed with thin basement membrane nephropathy. [PDF]

BMC Nephrol
Wang W, Chen L, Ding F, Li X.
europepmc   +1 more source