Results 41 to 50 of about 1,877 (178)

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

Frontiers in Pediatrics, 2022
BackgroundSteroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS.
Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts   +27 more
doaj   +1 more source

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient [PDF]

Pediatric Nephrology, 2010
Sirs, Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most frequent genetic cause for end-stage renal disease (ESRD) in the first three decades of life. Homozygous deletions in the NPHP1 gene account for approximately 21% of all NPHP cases, whereas the other genes contribute less than 3% each ...
Neveen A, Soliman, Friedhelm, Hildebrandt, Susan J, Allen, Edgar A, Otto, Marwa M, Nabhan, Ahmed M, Badr   +5 more
openaire   +2 more sources

Immunohistochemistry with anti-IFT57, anti-IFT88 and anti-NPHP1 in ^tamCep164^-/- mice.

, 2022
A-C, immunohistochemistry of 2.5wPTI tamCep164+/- (upper panels) and tamCep164-/- (lower panels) photoreceptors probed with anti-IFT57 (red) (A), anti-IFT88 (B) and anti-NPHP1 (C) antibodies.
Guoxin Ying (2967762), Wolfgang Baehr (2540), Jeanne M. Frederick (13762736), Ken-Ichi Takemaru (51369), Michelle Reed (391022)   +4 more
core   +1 more source

Exome Sequencing and MRI in Prenatal Diagnosis: A Case Report of Joubert Syndrome in Colombia [PDF]

Case Rep Genet
Objective To report the prenatal diagnosis of CSPP1‐related Joubert Syndrome 21 (JS21) in a fetus with multiple congenital anomalies, highlighting the complementary role of detailed neuroimaging and molecular genetic testing. Methods A fetus with suspected central nervous system anomalies underwent detailed prenatal ultrasound and fetal neurosonography,
Annicchiarico W, Peña-Pardo L, Redondo A, Cruzate K, Castro M, Betin G, Miranda J.   +6 more
europepmc   +2 more sources

Novel variants identified in five Chinese families with Joubert Syndrome: a case report

BMC Medical Genomics, 2023
Background Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia, and developmental delay.
Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei, De Wu   +5 more
doaj   +1 more source

Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls

Frontiers in Pediatrics, 2020
Background: A false interpretation of homozygosity for pathogenic variants causing autosomal recessive disorders can lead to improper genetic counseling.
Haiyue Deng, Yanqin Zhang, Yong Yao, Huijie Xiao, Baige Su, Ke Xu, Na Guan, Jie Ding, Fang Wang   +8 more
doaj   +1 more source

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.

PLoS ONE, 2010
Mutations in PKD1, the gene encoding for the receptor Polycystin-1 (PC-1), cause autosomal dominant polycystic kidney disease (ADPKD). The cytoplasmic C-terminus of PC-1 contains a coiled-coil domain that mediates an interaction with the PKD2 gene ...
Claas Wodarczyk, Gianfranco Distefano, Isaline Rowe, Massimiliano Gaetani, Barbara Bricoli, Mordi Muorah, Andrea Spitaleri, Valeria Mannella, Piero Ricchiuto, Monika Pema, Maddalena Castelli, Ariel E Casanova, Luca Mollica, Manuela Banzi, Manila Boca, Corinne Antignac, Sophie Saunier, Giovanna Musco, Alessandra Boletta   +18 more
doaj   +1 more source

Frecuencia de mutaciones encontradas en niños con enfermedad renal crónica por síndrome nefrótico cortico-resistente

Revista Médica Herediana, 2023
La enfermedad renal crónica en niños puede tener como etiología un grupo cuya causa genética, incluye las anomalías congénitas del riñón y las vías urinarias y las nefropatías hereditarias.
Reyner Loza, María Gutiérrez Torres, Roxana Rodríguez, Andrea Echevarría Rosas, Víctor Neyra   +4 more
doaj   +1 more source

Detection of heterozygous NPHP1 whole gene deletion in patient 5.

, 2016
(A) The ratio of normalized mean NGS coverage of individual coding exon of CNGA3, a gene on the same chromosome with NPHP1, and NPHP1, to that of the reference was plotted against the exon number.
Xia Wang (36364), Jianli Li (335935), Yanming Feng (3279927), Wei Zhang (405), Lee-Jun Wong (2633284), Richard A. Lewis (535635), Jing Wang (1228470)   +6 more
core   +1 more source

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

Orphanet Journal of Rare Diseases, 2023
Background The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades.
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann   +13 more
doaj   +1 more source