Results 111 to 120 of about 1,877 (178)

A case of Senior Loken syndrome with gene deletions of NPHP1-MALL

Nihon Shoni Jinzobyo Gakkai Zasshi, 2011
Ishimatsu, Nana, Ohtsuka, Yasufumi, Oka, Masafumi, Hamasaki, Yuhei, Aoki, Shigehisa, Sugimoto, Keisuke, Takemura, Tsukasa   +6 more
openaire   +2 more sources

CFAP100 forms phase-separated condensates required for ciliary transition zone assembly. [PDF]

Nat Commun
Sun S, Li K, Sun X, Tian R, Zhu LE, Liu K, Yue Y, Li W, Ran J, Zhou J, Liu M.   +10 more
europepmc   +1 more source

Correction: Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report

BMC Nephrology, 2023
Maiko Akira, Hitoshi Suzuki, Arisa Ikeda, Masako Iwasaki, Daisuke Honda, Hisatsugu Takahara, Hisaki Rinno, Shigeki Tomita, Yusuke Suzuki   +8 more
doaj   +1 more source

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome. [PDF]

J Clin Med
Li M, Li S, Cao Y, Sun A, Qu J.
europepmc   +1 more source

Human Left Ventricle circRNA-miRNA-mRNA Network Analyses Reveal a Novel Proangiogenic Role for circNPHP1 Under Ischemic Conditions. [PDF]

JACC Basic Transl Sci
Anwar M, Sarkar M, Ford K, Angelini GD, Punjabi PP, Guan Y, Laftah A, Chamorro-Jorganes A, Ji J, Srivastava PK, Petretto E, Emanueli C.   +11 more
europepmc   +1 more source

Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH. [PDF]

Front Cell Dev Biol
Zlotina A, Zhuk S, Kozyrev I, Sorokina M, Nikitina E, Shagimardanova E, Melnik O, Vershinina T, Petrova N, Kagantsov I, Vasichkina E, Pervunina T, Kostareva A.   +12 more
europepmc   +1 more source

Targeting GLP-1 Signaling Ameliorates Cystogenesis in a Zebrafish Model of Nephronophthisis. [PDF]

Int J Mol Sci
Eckert P, Nöller M, Müller M, Haas R, Ruf J, Franz H, Moos K, Yu JA, Zhao D, Xie W, Boerries M, Walz G, Yakulov TA.   +12 more
europepmc   +1 more source

Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1.

International journal of molecular epidemiology and genetics
NPHP1 is the most prevalent genetic factor in the development of juvenile nephronophthisis (NPHP). In our previous study, NPHP1 homozygous point mutations were detected by Sanger sequencing in three cases from two nonconsanguineous pedigrees. However, mutant sites were detected in only one parent from each respective pedigree.
Huamu, Chen, Hongrong, Lin, Zhihui, Yue, Haiyan, Wang, Junhui, Yang, Liangzhong, Sun   +5 more
openaire   +1 more source

Insight into Essential and Complex Autism Spectrum Disorders: Clinical Characteristics, Chromosomal Microarray Analysis, and Risk Factors. [PDF]

Genes (Basel)
Tüysüz B, Çifçi Sunamak E, Durcan G, Öztürk B, Uludağ Alkaya D, Çulpan HC, Korkmaz MB, Doğangün B, Kıykım E.   +8 more
europepmc   +1 more source

Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea. [PDF]

Genes (Basel)
Song JR, Jung S, Joo K, Choi HI, Kim YJ, Woo SJ.   +5 more
europepmc   +1 more source