Results 101 to 110 of about 4,156 (218)

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

Clinical Genetics, Volume 106, Issue 4, Page 403-412, October 2024.
Fifty‐one probands and 16 relatives affected by congenital cataract (CC), including both syndromic/non‐syndromic and unilateral/bilateral forms, were investigated by exome sequencing. A pathogenic (P) or likely pathogenic (LP) variant was identified in 19 out of 51 probands/families (~37%), while a VUS in a further 12 probands.
Mauro Lecca, Lucia Mauri, Simone Gana, Alessandra Del Longo, Federica Morelli, Roberta Nicotra, Massimo Plumari, Jessica Galli, Fabio Sirchia, Enza Maria Valente, Ugo Cavallari, Marco Mazza, Sabrina Signorini, Edoardo Errichiello   +13 more
wiley   +1 more source

A novel Rho-like protein TbRHP is involved in spindle formation and mitosis in trypanosomes.

PLoS ONE, 2011
BackgroundIn animals and fungi Rho subfamily small GTPases are involved in signal transduction, cytoskeletal function and cellular proliferation. These organisms typically possess multiple Rho paralogues and numerous downstream effectors, consistent with
Kanwal Abbasi, Kelly N DuBois, Ka Fai Leung, Joel B Dacks, Mark C Field   +4 more
doaj   +1 more source

Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report

Frontiers in Pediatrics, 2020
Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure ...
Martin Bezdíčka, Jan Langer, Jaromír Háček, Jakub Zieg   +3 more
doaj   +1 more source

Rab5 regulates macropinosome closure through recruitment of the inositol 5-phosphatases OCRL/Inpp5b and the hydrolysis of PtdIns(4,5)P2

bioRxiv, 2020
Rab5 is required for macropinosome formation, but its site and mode of action remain unknown. We report that Rab5 acts at the plasma membrane, downstream of ruffling, to promote macropinosome sealing and scission.
Michelle E. Maxson, Helen Sarantis, A. Volchuk, J. Brumell, S. Grinstein   +4 more
semanticscholar   +1 more source

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

JIMD Reports, Volume 65, Issue 5, Page 341-353, September 2024.
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews   +15 more
wiley   +1 more source

A Splicing Variant in OCRL Gene Might Explain the Second Case of Lowe Syndrome in Iran

Journal of Human Genetics and Genomics, 2020
: Lowe syndrome is a condition that primarily affects eyes, brain, and kidneys. This disorder follows X-linked recessive mode of inheritance and it occurs in males mainly.
M. Houshmand, G. Babamohammadi, H. Moazzeni, Ahmad Reza Salehi Chaleshtori, M. Akbari   +4 more
semanticscholar   +1 more source

Comparative analysis of genetic testing utilization rates among people with and without disabilities in South Korea from 2016 to 2019, focusing on malignant neoplasms: A national population‐based study

Cancer Medicine, Volume 13, Issue 9, May 2024.
Abstract Introduction Oncogene testing is widely used to detect or direct cancer treatments. Compared to people without disabilities, people with disabilities in Korea have a lower cancer incidence rate but a fivefold higher cancer mortality rate, implying delayed detection.
Gwanwook Bang, Minji Park, Jeong‐yeon Seon, So‐Youn Park   +3 more
wiley   +1 more source

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

Scientific Reports, 2017
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments.
Emilie Song, Na Luo, Jorge A. Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun   +8 more
doaj   +1 more source

The enzymological characterization of the Inositol Phosphatase Synaptojanin

, 2010
Synaptojanin is unique in that it is the only mammalian inositol phosphatase to contain more than one catalytic domain; a CX5R Suppressor of Actin (Sac) domain and an Inositol Polyphosphate Phosphatase Catalytic (IPPc) domain.
Knott, Jessica Mary May, Knott, Jessica Mary May   +1 more
core   +1 more source

Combining Genome Wide Association Studies and Differential Gene Expression Data Analyses Identifies Candidate Genes Affecting Mastitis Caused by Two Different Pathogens in the Dairy Cow [PDF]

, 2015
Mastitis is a costly disease which hampers the dairy industry. Inflammation of the mammary gland is commonly caused by bacterial infection, mainly Escherichia coli, Streptococcus uberis and Staphylococcus aureus.
Chen, X, Cheng, Z R, Wathes, D C, Werling, D, Zhang, S   +4 more
core   +3 more sources