Results 41 to 50 of about 13,537 (162)

Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL

Stem Cell Research, 2022
OCRL encodes for an inositol polyphosphate 5-phosphatase, located in the trans-Golgi network, endosomes, endocytic clathrin-coated pits, primary cilia. Mutations in OCRL causes Lowe syndrome (LS), a rare and complex disorder characterized by congenital ...
Grazia Iannello, Achchhe Patel, Dario Sirabella, Barbara Corneo, Vidhu V. Thaker   +4 more
doaj   +1 more source

Cross‐ploidy hybridisation in Alpine woodrushes is associated with ecological additivity and scale‐dependent niche divergence

New Phytologist, EarlyView.
Genetic differentiation among the study species. Summary Hybridisation and whole‐genome duplication (WGD) are widespread in plants, yet their ecological consequences remain challenging to predict. In allopolyploids, where both processes coincide, ecological divergence is typically evaluated against a null hypothesis of ecological additivity.
Valentin Heimer, Peter Schönswetter, Božo Frajman   +2 more
wiley   +1 more source

A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome

The Turkish Journal of Pediatrics, 2013
Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Ali Kanık, Belde Kasap-Demir, Rüya Ateşli, Kayı Eliaçık, Onder Yavaşcan, Mehmet Helvacı   +5 more
doaj  

Revisiting the Molecular Roadmap for Sugar Crops: Genome Reading, Trait Writing and Variety Redesigning

Plant Biotechnology Journal, EarlyView.
ABSTRACT Sugar crops, including but not limited to sugarcane, sugar beet, sweet sorghum and stevia, are major sources of sugar production in the world. However, conventional breeding approaches, limited by long breeding cycles, low efficiency and restricted capacity to improve complex traits in sugar crops, are increasingly insufficient to address the ...
Peilin Wang, Qibin Wu, Wenzhi Wang, Prakash Lakshmanan, Yangrui Li, Khushi Muhammad, Yuguang Wang, Youxiong Que   +7 more
wiley   +1 more source

Fish Assemblages in an Urbanized Neotropical Basin: Influence of Environmental Factors Across Dry and Rainy Periods

International Review of Hydrobiology, Volume 111, Issue 2, December 2026.
ABSTRACT This study investigated the effects of season and environmental disturbances on fish communities in neotropical rivers of the Sorocaba basin, a Sub‐Basin of the Paraná River in Southeast Brazil, based on sampling 1196 individuals from 49 species, including two non‐native and one threatened with extinction.
Natalia S. Alves, Daiane E. Cavallari, Welber S. Smith   +2 more
wiley   +1 more source

The oculocerebrorenal syndrome of Lowe: an update [PDF]

Pediatric Nephrology, 2016
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete ...
Bökenkamp, Arend, Ludwig, Michael
openaire   +3 more sources

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

eLife, 2014
Mutations in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease. Although OCRL, a direct clathrin interactor, is recruited to late-stage clathrin-coated pits, clinical manifestations have been primarily attributed to intracellular ...
Ramiro Nández, Daniel M Balkin, Mirko Messa, Liang Liang, Summer Paradise, Heather Czapla, Marco Y Hein, James S Duncan, Matthias Mann, Pietro De Camilli   +9 more
doaj   +1 more source

Motor skills and outcomes of activities and participation in children and adults born preterm without cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1207-1227, September 2026.
This is the first systematic review of the associations between motor skills and outcomes of activities and participation within the World Health Organization's International Classification of Functioning, Disability and Health framework in children and adults born preterm without cerebral palsy. Motor skills were associated with attention and academic
Kari Anne I. Evensen, Silje Dahl Benum, Henriette Paulsen, Kristina Anna Djupvik Aakvik, Sindre Andre Pedersen, Tordis Ustad   +5 more
wiley   +1 more source

Childhood cognitive control as a predictor of long‐term clinical and functional outcomes in Tourette syndrome

Journal of Child Psychology and Psychiatry, Volume 67, Issue 9, Page 1525-1536, September 2026.
Background Tourette syndrome (TS) is a childhood‐onset neuropsychiatric condition characterized by motor and vocal tics. Many individuals with TS continue to experience tics and functional difficulties into adulthood, yet the factors influencing these long‐term trajectories remain poorly understood.
Kathryn E. Barber, Emily J. Ricketts, Douglas W. Woods, John Piacentini, Flint M. Espil, Matthew Specht, Shannon M. Bennett, John T. Walkup, Susanna Chang, Alan L. Peterson, Lawrence Scahill, Sabine Wilhelm, Joseph F. McGuire   +12 more
wiley   +1 more source

Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome

Pediatria Polska
Lowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys.
Adam Jan Strzoda, Aleksandra Sobieszczańska-Droździel, Magdalena Kamińska   +2 more
doaj   +1 more source