2024年12月25日 · NPHP1 (Nephrocystin 1) is a Protein Coding gene. Diseases associated with NPHP1 include Senior-Loken Syndrome 1 and Nephronophthisis 1. Among its related …

The NPHP1 Family Foundation is dedicated to funding the accelerated development of therapies that will preserve vision for children and adults impacted by NPHP1 retinal dystrophies. …

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene. [5] This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial …

The NPHP1 gene provides instructions for making the nephrocystin-1 protein. This protein is thought to play a role in cell structures called cilia, which are microscopic, finger-like …

Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, …

2025年2月8日 · Title: NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Clinical and pathological features and varied mutational spectra of pathogenic …

肾单位消耗病（nephronophthisis，NPH），国内亦译为肾单位肾痨，是一种常染色体隐性遗传慢性小管间质性囊肿性肾病，是儿童和青少年终末期肾病（end-stage renal disease，ESRD） …

2011年4月29日 · The presence of large homozygous deletions of approximately 250 kb (607100.0005) in the 2q13 region in most patients with juvenile nephronophthisis (NPHP1; …

2022年11月28日 · 肾消耗病 (Nephronophthisis，NPHP)，又称为肾单位肾痨是一种常染色体隐性遗传性肾病，是儿童和青少年遗传因素所致的终末期肾病 (end-stage renal disease，ESRD) …

NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease. Congenital ocular motor apraxia and Joubert syndrome found to have a compound …