Results 21 to 30 of about 1,877 (178)

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis [PDF]

Kidney International Reports
Introduction: Primary cilia (PCs) are sensory antennae that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimuli.
Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean-Philippe Annereau, Sophie Saunier, Alexandre Benmerah   +13 more
doaj   +2 more sources

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report [PDF]

Frontiers in Pediatrics
Nephronophthisis (NPHP), an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis, is the most prevalent monogenic cause of end-stage renal disease (ESRD).
Wang Li, Gao-Hui Cao, Nan-Nan Li, Jie-Yi Long, You-Qing Tang, Ji-Shi Liu, Liang-Liang Fan   +6 more
doaj   +2 more sources

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

BMC Nephrology, 2021
Background Nephronophthisis (NPHP) is a chronic tubular interstitial disorder that exhibits an autosomal recessive genetic form and causes progressive renal failure in children. Patients with NPHP rarely show urinary abnormalities, edema, or hypertension.
Maiko Akira, Hitoshi Suzuki, Arisa Ikeda, Masako Iwasaki, Daisuke Honda, Hisatsugu Takahara, Hisaki Rinno, Shigeki Tomita, Yusuke Suzuki   +8 more
doaj   +3 more sources

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 [PDF]

Genetics in Medicine Open
Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders. Methods: We developed a copy-number variations analysis pipeline based on autosomal genome sequencing
Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood   +63 more
doaj   +2 more sources

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

European Journal of Medical Genetics, 2008
Joubert syndrome (JBS) is a clinically variable and genetically heterogeneous developmental brain disorder with autosomal recessive inheritance. Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, and two additional loci on chromosome 9 and 11 have been identified so far.
Kroes, Hester Y., van Zon, Patrick H. A., Fransen van de Putte, Dietje, Nelen, Marcel R., Nievelstein, Rutger-Jan, Wittebol-Post, Dienke, van Nieuwenhuizen, Onno, Mancini, Grazia M. S., van der Knaap, Marjo S., Kwee, Mei Lan, Maas, Saskia M., Cobben, Jan Maarten, de Nef, Jacques E. E., Lindhout, Dick, Sinke, Richard J., Van Nieuwenhulzen, O.   +15 more
core   +7 more sources

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity [PDF]

Orphanet Journal of Rare Diseases
Background Rare diseases affect approximately 400 million people worldwide. Many of them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need to be diagnosed as early as possible as potential treatments have been recently ...
Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen, Anita Burgun   +8 more
doaj   +2 more sources

Milky white serum in an infant with anasarca: a case report [PDF]

Childhood Kidney Diseases
Milky white serum in infancy is rare and usually reflects a metabolic disorder; renal causes are distinctly uncommon. We report a 7-month-old male infant who presented with generalized edema and strikingly lipemic serum.
Suchismita Saha, Menka Yadav, Anjali Tomar, Sanya Chopra, Abhijeet Saha   +4 more
doaj   +2 more sources

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

Nephrology (Carlton)
ABSTRACT Hereditary tubulointerstitial kidney diseases typically manifest as slowly progressive chronic kidney disease. Rapidly progressive kidney failure with non‐cystic nephromegaly is an exceptionally rare presentation posing significant diagnostic challenges.
Ito H, Mashiko S, Mizuno S, Kanomata Y, Yano K, Suzuki Y, Sato F, Tajima R, Anan G, Hirose T, Ishiyama K, Mori T.   +11 more
europepmc   +2 more sources

Funktionelle Untersuchungen zu NPHP1 mittels CRISPR/Cas9 basiertem Genome Engineering [PDF]

Zystische Nierenerkrankungen stellen in ihrer Gesamtheit eine der häufigsten genetischen Ursachen für die terminale Niereninsuffizienz im Kindes- und Erwachsenenalter dar. Die wichtigsten Vertreter sind die autosomal-dominante polyzystische Nierenerkrankung (ADPKD) und die pädiatrische rezessive Form (ARPKD), sowie die ebenfalls meist pädiatrische ...
Münkner, Lea
openaire   +2 more sources

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies. [PDF]

J Cell Commun Signal
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Zhang Q, Xue S, Gao Z, Shi P, Wang L, Feng Q, Kong X, Zhu X.   +7 more
europepmc   +2 more sources