Results 71 to 80 of about 149,259 (318)

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

p21 is decreased in polycystic kidney disease and leads to increased epithelial cell cycle progression: roscovitine augments p21 levels. [PDF]

, 2007
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease with few treatment options other than renal replacement therapy. p21, a cyclin kinase inhibitor which has pleiotropic effects on the cell cycle, in many cases acts
Anderson, Sharon, Bagby, Susan P, Lindsley, Jessie N, Oyama, Terry T, Park, Jin-Young, Schutzer, William E, Weiss, Robert H   +6 more
core   +3 more sources

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Acta Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė, Meda Sutkevičiūtė, Birutė Burnytė, Kristina Grigalionienė, Augustina Jankauskienė   +4 more
doaj   +1 more source

Contemporary Perspectives on Chronic Renal Disorders

Chronic Diseases and Translational Medicine, EarlyView.
ABSTRACT The prevalence of renal diseases and its associated burden on healthcare have tremendously risen in the past few years. From simple markers assessing kidney function, current renal research delves into understanding the diseases at the cellular and molecular levels and not just at treating, but at improving quality of life, arresting ...
Deenadhayalan Ashok, Poornima Ajay Manjrekar, Bhushan C. Shetty, Sujina S. S, Rukmini Mysore Srikantiah, Sowndarya Kollampare   +5 more
wiley   +1 more source

Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]

, 2003
Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R., Prétôt, René F., Sternberg, Paul W., Yu, Hui   +3 more
core   +1 more source

Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion

Oman Medical Journal, 2018
The autosomal dominant polycystic kidney disease (ADPKD) accounts for one out of 400–1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvement. The pericardial effusion (PE) in the context of
Guillermo Alberto Perez Fernandez, Montaser Y. Ismail   +1 more
doaj   +1 more source

Changes in Protein Expression of Renal Drug Transporters and Drug‐Metabolizing Enzymes in Autosomal Dominant Polycystic Kidney Disease Patients

Clinical Pharmacology &Therapeutics, EarlyView.
Autosomal dominant polycystic kidney disease is the most prevalent inherited kidney disease and leads to bilateral kidney enlargement and progressive loss of renal function, often over decades. Comorbidities include hypertension, flank pain, and bacterial infections. The condition often necessitates prolonged multidrug therapy.
Annika C. Tillmann, Dorien J. M. Peters, Amin Rostami‐Hodjegan, Patricia Wilson, Jill Norman, Jill Barber, Zubida M. Al‐Majdoub   +6 more
wiley   +1 more source

Chinese clinical practice guide for autosomal dominant polycystic kidney disease

Linchuang shenzangbing zazhi, 2019
常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
doaj  

Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]

European Medical Journal Nephrology, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj  

Combined Liver and Kidney Transplant in a Patient with Budd-Chiari Syndrome Secondary to Autosomal Dominant Polycystic Kidney Disease Associated with Polycystic Liver Disease: Report of a Case with a 9-Year Follow-Up

Case Reports in Gastrointestinal Medicine, 2014
Polycystic liver disease (PLD) is a hereditary disease inherited by autosomal dominant trait that occurs as a frequent extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD).
Patricia Ramírez de la Piscina, Ileana Duca, Silvia Estrada, Rosario Calderón, Idoia Ganchegui, Amaia Campos, Katerina Spicakova, Leire Urtasun, Marta Salvador, Elvira Delgado, Raquel Bengoa, Francisco García-Campos   +11 more
doaj   +1 more source