Results 61 to 70 of about 1,632 (161)

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations

Journal of Neurodevelopmental Disorders, 2020
Background Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit formation, and actin polymerization.
Hequn Liu, Jesse Barnes, Erika Pedrosa, Nathaniel S. Herman, Franklin Salas, Ping Wang, Deyou Zheng, Herbert M. Lachman   +7 more
doaj   +1 more source

Gαq signalling from endosomes: A new conundrum

British Journal of Pharmacology, Volume 182, Issue 14, Page 3068-3089, July 2025.
Abstract G‐protein‐coupled receptors (GPCRs) constitute the largest family of membrane receptors, and are involved in the transmission of a variety of extracellular stimuli such as hormones, neurotransmitters, light and odorants into intracellular responses.
Carole Daly, Bianca Plouffe
wiley   +1 more source

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Domain‐Shuffling in the Evolution of Cyclostomes and Gnathostomes

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 344, Issue 2, Page 59-79, March 2025.
We addressed the potential roles of domain‐shuffling origin genes (DSO‐Gs) in the evolution of early vertebrates. Through comparative genome analysis of 22 metazoans, including four cyclostomes, we identified DSO‐Gs before and after the divergence of cyclostomes and gnathostomes, and suggest domain shuffling as a key mechanism in vertebrate early ...
Hirofumi Kariyayama, Takeshi Kawashima, Hiroshi Wada, Haruka Ozaki   +3 more
wiley   +1 more source

Síndrome de Lowe: relato de cinco casos Lowe syndrome: report of five cases

Brazilian Journal of Nephrology, 2010
INTRODUÇÃO: A síndrome de Lowe, ou distrofia oculocerebrorrenal (OCRL), tem herança recessiva ligada ao cromossomo X. Apresenta-se com catarata, glaucoma, atraso no desenvolvimento neuropsicomotor (DNPM), déficit cognitivo e síndrome de Fanconi. OBJETIVO:
Marta Liliane de Almeida Maia, Maria Luiza Dautro Moreira do Val, Camila Penteado Genzani, Fernanda Alves Thomaz Fernandes, Maria Cristina de Andrade, João Tomás de Abreu Carvalhaes   +5 more
doaj   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes [PDF]

European Journal of Human Genetics, 2012
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent's disease carry no CLCN5/OCRL mutations.
Maria Addis, Cristiana Meloni, TOSETTO, ENRICA, CEOL, MONICA, CRISTOFARO, ROSALBA, Maria Antonietta Melis, Paolo Vercelloni, DEL PRETE, DORELLA, Giuseppina Marra, ANGLANI, FRANCA   +9 more
openaire   +4 more sources

Molecular and mechanical mechanisms of animal cell abscission

FEBS Letters, Volume 599, Issue 3, Page 297-298, February 2025.
Cytokinesis leads to the distribution of segregated chromosomes, membrane, and cytoplasmic material in the two daughter cells, and ultimately concludes with abscission, their physical separation. In this Graphical Review, we outline the key events that lead to abscission and discuss mechanisms of delayed abscisison.
Amber Öztop, Agathe Chaigne
wiley   +1 more source

Proteomic analysis across aged tissues reveals distinct signatures and the crucial involvement of midgut barrier function in the regulation of aging

Aging Cell, Volume 24, Issue 1, January 2025.
Proteomic analysis reveals that instead of specific proteins, different tissues exhibit common dysregulated functional networks. Specifically, the integrity of the midgut barrier function is compromised during aging, which can be restored through the downregulation of the insulin receptor (InR).
Congying Zhang, Jinlong Wang, Tianzhao Yao, Jiaxin Hu, Feifei Sun, Chunlu Feng, Zhendong Sun, Yuzhuo Shao, Zhu Wang, Jiarui Wu, Yunpeng Huang   +10 more
wiley   +1 more source

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe

The Turkish Journal of Pediatrics, 2013
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction.
Rezan Topaloğlu, Michael Ludwig, Aslı Çelebi Tayfur   +2 more
doaj