Research & Literature

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

Sun L, Tong H, Wang H, et al.

Nephrology (Carlton, Vic.) 2016; (21(3)):209-16 doi:10.1111/nep.12563.

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA, Schueler M, Halbritter J, et al.

Kidney international 2016; (89(2)):468-475 doi:10.1038/ki.2015.317.

Nephronophthisis.

Srivastava S, Sayer JA

Journal of pediatric genetics 2014; (3(2)):103-14 doi:10.3233/PGE-14086.

Treatment of Pediatric Chronic Kidney Disease-Mineral and Bone Disorder.

Hanudel MR, Salusky IB

Current osteoporosis reports 2017; (15(3)):198-206 doi:10.1007/s11914-017-0365-0.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Fleming LR, Doherty DA, Parisi MA, et al.

Clinical journal of the American Society of Nephrology : CJASN 2017; (12(12)):1962-1973 doi:10.2215/CJN.05660517.

Joubert Syndrome with Orofacial Digital Features.

Bhardwaj P, Sharma M, Ahluwalia K

Journal of neurosciences in rural practice 2018; (9(1)):152-154 doi:10.4103/jnrp.jnrp_338_17.

Late-onset hydrocephalus in a child with Joubert syndrome: a case report.

Fehrenbach MK, Nestler U, Meixensberger J, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(7)):1423-1425 doi:10.1007/s00381-018-3767-0.

Nephronophthisis: A review of genotype-phenotype correlation.

Luo F, Tao YH

Nephrology (Carlton, Vic.) 2018; (23(10)):904-911 doi:10.1111/nep.13393.

Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy.

Larsen CP, Bonsib SM, Beggs ML, Wilson JD

Human pathology 2018; (81()):71-77 doi:10.1016/j.humpath.2018.06.021.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Stokman MF, van der Zwaag B, van de Kar NCAJ, et al.

Pediatric nephrology (Berlin, Germany) 2018; (33(10)):1701-1712 doi:10.1007/s00467-018-3958-7.

Chronic Kidney Disease and Dietary Measures to Improve Outcomes.

Akchurin OM

Pediatric clinics of North America 2019; (66(1)):247-267 doi:10.1016/j.pcl.2018.09.007.

Ciliopathy: Senior-Løken Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):175-178 doi:10.1007/978-3-319-95046-4_34.

Establishing and regulating the composition of cilia for signal transduction.

Nachury MV, Mick DU

Nature reviews. Molecular cell biology 2019; (20(7)):389-405 doi:10.1038/s41580-019-0116-4.

Clinical practice recommendations for growth hormone treatment in children with chronic kidney disease.

Drube J, Wan M, Bonthuis M, et al.

Nature reviews. Nephrology 2019; (15(9)):577-589 doi:10.1038/s41581-019-0161-4.

Hippo signaling-a central player in cystic kidney disease?

Müller RU, Schermer B

Pediatric nephrology (Berlin, Germany) 2020; (35(7)):1143-1152 doi:10.1007/s00467-019-04299-3.

Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.

Watanabe Y, Fujinaga S, Sakuraya K, et al.

The Tohoku journal of experimental medicine 2019; (249(1)):29-32 doi:10.1620/tjem.249.29.

NPHP proteins are binding partners of nucleoporins at the base of the primary cilium.

Blasius TL, Takao D, Verhey KJ

PloS one 2019; (14(9)):e0222924 doi:10.1371/journal.pone.0222924.

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.

Shaheen R, Alsahli S, Ewida N, et al.

Hepatology (Baltimore, Md.) 2020; (71(6)):2067-2079 doi:10.1002/hep.30982.

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

Luo M, Cao L, Cao Z, et al.

Molecular genetics & genomic medicine 2019; (7(12)):e1004 doi:10.1002/mgg3.1004.

Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening.

Tang C, Zhou D, Tan R, et al.

Molecular medicine reports 2020; (21(3)):1115-1124 doi:10.3892/mmr.2020.10917.

[Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2].

Wu Q, Yang S, Wang C, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(5)):559-562 doi:10.3760/cma.j.issn.1003-9406.2020.05.016.

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

Alizadeh R, Jamshidi S, Keramatipour M, et al.

Iranian biomedical journal 2020; (24(6)):405-8 doi:10.29252/ibj.24.6.400.

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

Khan MI, Latif M, Saif M, et al.

The journal of gene medicine 2021; (23(1)):e3279 doi:10.1002/jgm.3279.

Senior-Løken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy.

Hirai Y, Mizumoto A, Mitsumoto K, Uzu T

BMJ case reports 2020; (13(10)) doi:10.1136/bcr-2020-236137.

Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome.

Ning K, Song E, Sendayen BE, et al.

Molecular genetics & genomic medicine 2021; (9(1)):e1566 doi:10.1002/mgg3.1566.

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.

Tang X, Liu C, Liu X, et al.

Journal of medical genetics 2022; (59(2)):147-154 doi:10.1136/jmedgenet-2020-107184.

Bone Disease in CKD in Children.

Santos F, Díaz-Anadón L, Ordóñez FA, Haffner D

Calcified tissue international 2021; (108(4)):423-438 doi:10.1007/s00223-020-00787-z.

Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.

Al-Hamed MH, Alzaidan H, Hussein M, et al.

Clinical kidney journal 2021; (14(2)):728-730 doi:10.1093/ckj/sfaa090.

Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.

Gannamani R, van der Veen S, van Egmond M, et al.

Movement disorders clinical practice 2021; (8(3)):311-321 doi:10.1002/mdc3.13163.

Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.

Wang X, Xiao H, Yao Y, et al.

Frontiers in genetics 2021; (12()):697085 doi:10.3389/fgene.2021.697085.

Overexpression of smad7 inhibits the TGF-β/Smad signaling pathway and EMT in NPHP1-defective MDCK cells.

Wu X, Wang H, Chen H, et al.

Biochemical and biophysical research communications 2021; (582()):57-63 doi:10.1016/j.bbrc.2021.10.037.

Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.

Gupta S, Ozimek-Kulik JE, Phillips JK

Genes 2021; (12(11)) doi:10.3390/genes12111762.

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.

Al Alawi I, Powell L, Rice SJ, et al.

Frontiers in genetics 2021; (12()):791495 doi:10.3389/fgene.2021.791495.

Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.

Sakakibara N, Nozu K, Yamamura T, et al.

Journal of human genetics 2022; (67(7)):427-440 doi:10.1038/s10038-022-01020-5.

Long-Term Outcomes of Kidney Transplant Recipients With Juvenile Nephronophthisis.

Avcı B, Baskın E, Gülleroğlu K, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2022; (20(Suppl 3)):122-125 doi:10.6002/ect.PediatricSymp2022.O39.

Potpourri of retinopathies in rare eye disease - A case series.

Pawar N, Manayath GJ, Verghese S, et al.

Indian journal of ophthalmology 2022; (70(7)):2605-2609 doi:10.4103/ijo.IJO_3002_21.

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.

Li J, Su X, Zhang H, et al.

Pediatric nephrology (Berlin, Germany) 2023; (38(5)):1609-1620 doi:10.1007/s00467-022-05763-3.

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Sekine A, Hidaka S, Moriyama T, et al.

Journal of clinical medicine 2022; (11(21)) doi:10.3390/jcm11216528.

High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.

Çavdarlı B, Köken ÖY, Satılmış SBA, et al.

Annals of human genetics 2023; (87(3)):104-114 doi:10.1111/ahg.12492.

[Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient].

Heras Benito M, Pérez García ML, Antúnez Plaza P, Montero Mateos E

Hipertension y riesgo vascular 2023; (40(3)):150-153 doi:10.1016/j.hipert.2023.02.001.

NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.

Tauqeer Z, O'Neil EC, Brucker AJ, Aleman TS

Retinal cases & brief reports 2023; (17(4)):352-358 doi:10.1097/ICB.0000000000001208.

A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.

Liu Y, Qiu T, Chen Z, et al.

Transplant immunology 2023; (78()):101828 doi:10.1016/j.trim.2023.101828.

Primary cilia of the kidney: from ciliopathy to urinary concentration.

Kim GH

Kidney research and clinical practice 2023; (42(3)):279-281 doi:10.23876/j.krcp.23.083.

Joubert syndrome: a case report of neonatal presentation and early diagnosis.

González-Gordillo CI, Orozco-Soto LE, Osegueda-Mayen JR, et al.

Boletin medico del Hospital Infantil de Mexico 2023; (80(Supl 1)):23-27 doi:10.24875/BMHIM.22000075.

[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].

Zhao X, Jiang LJ, Rong ZH, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(8)):831-836 doi:10.7499/j.issn.1008-8830.2303020.

Non-classical functions of nuclear pore proteins in ciliopathy.

Chen Y, Zhang Y, Zhou X

Frontiers in molecular biosciences 2023; (10()):1278976 doi:10.3389/fmolb.2023.1278976.

Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome.

Khan AO

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2023; (37(4)):310-312 doi:10.4103/sjopt.sjopt_140_23.

Dapafliglozin and Correction of Anemia in Patients with CKD.

Singh AK

NEJM evidence 2023; (2(6)):EVIDe2300095 doi:10.1056/EVIDe2300095.

Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report.

Tanaka Y, Horinouchi T, Inoki Y, et al.

CEN case reports 2024; (13(6)):474-478 doi:10.1007/s13730-024-00871-5.

Renal Pathology of Ciliopathies.

Sekar T, Sebire NJ

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2024; (27(5)):411-425 doi:10.1177/10935266241242173.

Renal cell carcinoma in an adult-onset ESRD patient with nephronophthisis harboring NPHP3 deletion: A case report.

Li ZL, Wang FM, Wen Y, et al.

Heliyon 2024; (10(7)):e28985 doi:10.1016/j.heliyon.2024.e28985.

Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review.

Alhashimi I, Zoghoul S, Khalil SK, et al.

Cureus 2024; (16(9)):e69872 doi:10.7759/cureus.69872.

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.

Olinger E, Wilson IJ, Orr S, et al.

Genetics in medicine open 2024; (2()):101834 doi:10.1016/j.gimo.2024.101834.

Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice.

Yang Y, Xue Z, Lai J, et al.

Clinical and translational medicine 2025; (15(3)):e70245 doi:10.1002/ctm2.70245.

Renal ciliopathies.

Devlin LA, Dewhurst RM, Sudhindar PD, Sayer JA

Current topics in developmental biology 2025; (163()):229-305 doi:10.1016/bs.ctdb.2025.01.009.

Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1.

Dong T, Luo J, Sun T, et al.

Frontiers in pediatrics 2025; (13()):1541411 doi:10.3389/fped.2025.1541411.

When Nonspecific Symptoms Conceal Kidney Disease: A Case Report on Recognizing Juvenile Nephronophthisis in Pediatric Practice.

Shah A, Shah A, Lemaire M, et al.

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):424-429 doi:10.1016/j.pedhc.2025.08.004.

Executive Summary of the KDIGO 2026 Clinical Practice Guideline for the Management of Anemia in Chronic Kidney Disease (CKD).

Babitt JL, Berns JS, Bozkurt B, et al.

Kidney international 2026; (109(1)):44-56 doi:10.1016/j.kint.2025.06.005.

Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.

Ito H, Mashiko S, Mizuno S, et al.

Nephrology (Carlton, Vic.) 2026; (31(4)):e70198 doi:10.1111/nep.70198.