Results 21 to 30 of about 1,281 (185)

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source

Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene

Saudi Journal of Kidney Diseases and Transplantation, 2020
The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Suman Sethi, Nitin Sethi, Sudhir Mehta, Simran Kaur, Vikas Makkar, P M Sohal   +5 more
doaj   +1 more source

Arabidopsis ADR1 helper NLR immune receptors localize and function at the plasma membrane in a phospholipid dependent manner

New Phytologist, Volume 232, Issue 6, Page 2440-2456, December 2021., 2021
Summary Activation of nucleotide‐binding leucine‐rich repeat receptors (NLRs) results in immunity and a localized cell death. NLR cell death activity requires oligomerization and in some cases plasma membrane (PM) localization. The exact mechanisms underlying PM localization of NLRs lacking predicted transmembrane domains or recognizable lipidation ...
Svenja C. Saile, Frank M. Ackermann, Sruthi Sunil, Jutta Keicher, Adam Bayless, Vera Bonardi, Li Wan, Mehdi Doumane, Eva Stöbbe, Yvon Jaillais, Marie‐Cécile Caillaud, Jeffery L. Dangl, Marc T. Nishimura, Claudia Oecking, Farid El Kasmi   +14 more
wiley   +1 more source

Optimization of a modeling platform to predict oncogenes from genome‐scale metabolic networks of non‐small‐cell lung cancers

FEBS Open Bio, Volume 11, Issue 8, Page 2078-2094, August 2021., 2021
Identifying differentially expressed genes is critical in exploring molecular mechanisms of cancers. A high level of differential gene expression is not an essential factor for tumorigenesis. We developed an optimization platform that can identify oncogenes with low levels of differential expression and potential therapeutic targets for cancer ...
You‐Tyun Wang, Min‐Ru Lin, Wei‐Chen Chen, Wu‐Hsiung Wu, Feng‐Sheng Wang   +4 more
wiley   +1 more source

Novel mutation in OCRL leading to a severe form of Lowe syndrome [PDF]

International Journal of Ophthalmology, 2019
AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral
Feng-Qi Zhou, Qi-Wei Wang, Zhen-Zhen Liu, Xu-Lin Zhang, Dong-Ni Wang, Mei-Mei Dongye, Hao-Tian Lin, Wei-Rong Chen   +7 more
doaj   +1 more source

Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl

Frontiers in Pediatrics, 2021
Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns.
Ling Hou, Yue Du, Yubin Wu, Yue Zeng, Chengguang Zhao   +4 more
doaj   +1 more source

Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma. [PDF]

Ophthalmol Glaucoma
Shah DM, Wei L, Forbes HE, Cho E, Miglani T, Dortonne I, Manrique MM, Martinez C, Madigan WP, Jaafar MS, Levin MR, Alexander JL.   +11 more
europepmc   +2 more sources

Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome

Frontiers in Medicine, 2022
We describe the case of a 4-month-old boy who presented with bilateral congenital cataract and high intraocular pressure (IOP) in the left eye, followed by mental retardation and delayed motor development.
Chen Wang, Wenzhe Zhang, Leyi Wang, Wenhui Liu, Hui Guo   +4 more
doaj   +1 more source

Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome

Journal of the Formosan Medical Association, 2009
The oculocerebrorenal syndrome of Lowe, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical abnormalities of the eyes, kidneys and nervous system.
Jia-Woei Hou
doaj   +1 more source

Anesthetic challenges in a child with Lowe's and Fanconi syndrome

Indian Journal of Anaesthesia, 2018
Oculocerebrorenal syndrome of Lowe is a rare X-linked metabolic disorder complicated by Fanconi's syndrome. Anaesthetic management of Lowe syndrome with Fanconi's syndrome is challenging to the anaesthesiologists in view of difficult airway due to ...
Shital Digambar Chaudhari, Manpreet Kaur
doaj   +1 more source