Results 101 to 110 of about 42,420 (251)
Insulin-like growth factor-1 induces hyperproliferation of PKD1 cystic cells via a Ras/Raf dependent signalling pathway [PDF]
, 2007 Autosomal dominant polycystic kidney disease (ADPKD) largely results from mutations in the PKD1 gene leading to hyperproliferation of renal tubular epithelial cells and consequent cyst formation.
Harris, P.C. +7 more
core +1 more source
Routine 36‐week scan: diagnosis of fetal abnormalities
Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 427-435, April 2025.ABSTRACT Objectives To investigate further the incidence and types of fetal abnormality identified at a routine 36‐week ultrasound examination, which had not been diagnosed in previous scans at 20 weeks and 12 weeks' gestation, and to report the fetal abnormalities that are diagnosed only postnatally.
A. Syngelaki +5 more
wiley +1 more source
An estimate of the average number of recessive lethal mutations carried by humans [PDF]
arXiv, 2014 The effects of inbreeding on human health depend critically on the number and severity of recessive, deleterious mutations carried by individuals. In humans, existing estimates of these quantities are based on comparisons between consanguineous and non-consanguineous couples, an approach that confounds socioeconomic and genetic effects of inbreeding ...
arxiv
American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.ABSTRACT Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin‐2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains
Erica L. Macke +13 more
wiley +1 more source
The Kidneys Are Not All Normal: Investigating the Speckle Distributions of Transplanted Kidneys [PDF]
arXiv, 2022 Modelling ultrasound speckle has generated considerable interest for its ability to characterize tissue properties. As speckle is dependent on the underlying tissue architecture, modelling it may aid in tasks like segmentation or disease detection. However, for the transplanted kidney where ultrasound is commonly used to investigate dysfunction, it is ...
arxiv
Translation, cultural adaptation and aplication of a pain questionnaire for patients with polycystic kidney disease [PDF]
, 2010 INTRODUCTION: Pain is a common symptom in patients with autosomal dominant polycystic kidney disease (ADPKD), affecting around 60% of cases. OBJECTIVE: Translate a pain questionnaire developed and validated for ADPKD in USA into Portuguese and to perform
Eloi, Samara Rodrigues Moreira +2 more
core +2 more sources
Clinical and Translational Medicine, Volume 15, Issue 3, March 2025.• Canonical Hippo pathway activated in nphp1‐deficient disease models and patients. • Kibra was a key upstream molecule in regulating the activation of canonical Hippo pathway in nphp1‐deficient disease models and patients and closely related to renal cyst formation and fibrosis in nphp1KO mice.
Yichen Yang +9 more
wiley +1 more source
Aldosterone as a renal growth factor [PDF]
, 2010 Aldosterone regulates blood pressure through its effects on the cardiovascular system and kidney. Aldosterone can also contribute to the development of hypertension that leads to chronic pathologies such as nephropathy and renal fibrosis.
Dooley, Ruth +2 more
core +1 more source
Proteome-wide prediction of mode of inheritance and molecular mechanism underlying genetic diseases using structural interactomics [PDF]
Genetic diseases can be classified according to their modes of inheritance and their underlying molecular mechanisms. Autosomal dominant disorders often result from DNA variants that cause loss-of-function, gain-of-function, or dominant-negative effects, while autosomal recessive diseases are primarily linked to loss-of-function variants. In this study,
arxiv +1 more source
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]
, 2018 We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique +10 more
core