Results 51 to 60 of about 1,877 (178)

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome [PDF]

The American Journal of Human Genetics, 2004
Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the "molar tooth sign" [MTS] on axial magnetic resonance imaging), mental retardation, hypotonia, irregular breathing pattern, and eye-movement abnormalities.
Parisi, Melissa A., Bennett, Craig L., Eckert, Melissa L., Dobyns, William B., Gleeson, Joseph G., Shaw, Dennis W.W., McDonald, Ruth, Eddy, Allison, Chance, Phillip F., Glass, Ian A.   +9 more
openaire   +2 more sources

Plk1 directly phosphorylates NPHP1 in vitro.

, 2012
A Alignment of NPHP1 protein sequences from multiple species indicates a conserved candidate Plk1 motif at position T87. B An in vitro kinase assay performed with active Plk1 and recombinant His-fused NPHP1 protein indicates phosphorylation within the ...
Tamina Seeger-Nukpezah (159345), Erica A. Golemis (159379), Katja Höpker (159359), Max C. Liebau (159351), Thomas Benzing (159371), Bernhard Schermer (159386), Tobias Lamkemeyer (159366)   +6 more
core   +1 more source

The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1.

PLoS ONE, 2012
Polo-like kinase (Plk1) plays a central role in regulating the cell cycle. Plk1-mediated phosphorylation is essential for centrosome maturation, and for numerous mitotic events.
Tamina Seeger-Nukpezah, Max C Liebau, Katja Höpker, Tobias Lamkemeyer, Thomas Benzing, Erica A Golemis, Bernhard Schermer   +6 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion [PDF]

Clinical Case Reports, 2019
Key Clinical MessageWe report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a heterozygous PKD1 mutation. We suggest that the PKD1 mutation may have epistatically ameliorated NPHP disease progression and that the screening of larger cohorts for similar possible epistatic effects is ...
Saki Watanabe, Jun Ino, Takuya Fujimaru, Sekiko Taneda, Taro Akihisa, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +11 more
openaire   +2 more sources

Інноваційна діагностика розладів нейророзвитку в дітей

Український журнал Перинатологія і педіатрія, 2023
Методи генетичної діагностики на сьогодні являють собою потужний інструмент для практичного лікаря, які дають змогу не лише встановлювати етіологію розладів нейророзвитку в дітей, але й впливають на подальшу тактику ведення пацієнта, вибір подальших ...
L.H. Kirilova, O.O. Miroshnikov, O.V. Beregela, V.M. Badiuk, M.V. Filozop, O.O. Dolenko, Y.M. Bondarenko   +6 more
doaj   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 more
wiley   +1 more source

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

Human Pathology, 2018
Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy that is a leading genetic etiology of end-stage renal disease in children and young adults. Approximately 60% of patients with a known genetic etiology of nephronophthisis are due to homozygous deletion of the NPHP1 gene.
Christopher P, Larsen, Stephen M, Bonsib, Marjorie L, Beggs, Jon D, Wilson   +3 more
openaire   +2 more sources

Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series [PDF]

Annals of General Psychiatry, 2014
Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social interactions, reduced verbal communication abilities, stereotyped repetitive behaviors, and restricted interests. It is a complex condition caused by genetic and environmental factors; the high heritability of this disorder supports the presence of a ...
Yasuda, Yuka, Hashimoto, Ryota, Fukai, Ryoko, Okamoto, Nobuhiko, Hiraki, Yoko, Yamamori, Hidenaga, Fujimoto, Michiko, Ohi, Kazutaka, Taniike, Masako, Mohri, Ikuko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Matsumoto, Naomichi, Miyake, Noriko, Takeda, Masatoshi   +15 more
openaire   +2 more sources

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source