Results 61 to 70 of about 1,383 (138)
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 +10 more
wiley +1 more source
Aquaculture Research, Volume 2025, Issue 1, 2025.Oxygen consumption rate (OCR), which reflects the metabolism requirement of fish, is regulated by body weight and temperature. However, the priority of body weight and temperature in determining the OCR of fish is not clear. The optimal temperature and feeding time for the commercially important silver pomfret (Pampus argenteus) in China were evaluated
Yu Liu +5 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2006 Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney.
Loi Mario
doaj +1 more source
Premature cognitive decline in a mouse model of tuberous sclerosis
Aging Cell, Volume 23, Issue 12, December 2024.Tuberous sclerosis (TS) is a progressive neurodevelopmental disorder caused by mutations in Tsc1 or Tsc2 genes, leading to hyperactivity of the mTOR pathway. Using a conventional Tsc2+/− model, we observed a premature decline of cognitive functions and a reduction of immediate early gene expression, that could be rescued by IGF2.
J. Krummeich +15 more
wiley +1 more source
Childhood glaucoma: Implications for genetic counselling
Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley +1 more source
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 +13 more
wiley +1 more source
Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a family
Abstract Background Lowe syndrome is a rare X-linked recessive genetic disease characterized by congenital binocular cataracts, central nervous system developmental delay, and progressive renal failure caused by tubular injury. Mutations in the OCRL gene can lead to two diseases: Dent-2 syndrome and Lowe syndrome.
Yuchan Huang +6 more
openaire +1 more source
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 +15 more
wiley +1 more source
Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome
Pediatria PolskaLowe 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 +2 more
doaj +1 more source
Correction to: Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations [PDF]
Pediatric Nephrology, 2022 Chikushi Suruda +9 more
openaire +1 more source