Results 51 to 60 of about 1,639,589 (408)

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal of the American Society of Nephrology, 2017
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver
E. Cornec-Le Gall, V. Torres, P. Harris
semanticscholar   +1 more source

A Generic Framework for Hidden Markov Models on Biomedical Data [PDF]

arXiv, 2023
Background: Biomedical data are usually collections of longitudinal data assessed at certain points in time. Clinical observations assess the presences and severity of symptoms, which are the basis for description and modeling of disease progression.
arxiv  

CRISPR/Cas therapeutic strategies for autosomal dominant disorders

The Journal of Clinical Investigation, 2022
Autosomal dominant disorders present unique challenges, as therapeutics must often distinguish between healthy and diseased alleles while maintaining high efficiency, specificity, and safety.
Salvatore Marco Caruso, Peter M.J. Quinn, Bruna Lopes da Costa, Stephen H. Tsang   +3 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016.

American Journal of Kidney Diseases, 2016
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease. It is characterized by relentless development of kidney cysts, hypertension, and eventually end-stage renal disease (ESRD).
F. Chebib, V. Torres
semanticscholar   +1 more source

Magnetic resonance imaging 3t and total fibrotic volume in autosomal dominant polycystic kidney disease [PDF]

, 2018
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal hereditary disorder. Several authors have attempted to identify a kidney damage marker for predicting the prognosis and the effectiveness of therapy in ADPKD ...
Ciccariello, Mauro, D'Angelo, Anna Rita, DI GAETA, Alessandro, Ferrigno, Luigina, Lai, Silvia, Letizia, Claudio, Mastroluca, Daniela, Panebianco, Valeria, Perrotta, ADOLFO MARCO, Petramala, Luigi   +9 more
core   +1 more source

The power of microRNA regulation—insights into immunity and metabolism

FEBS Letters, EarlyView.
MicroRNAs are emerging as crucial regulators at the intersection of metabolism and immunity. This review examines how miRNAs coordinate glucose and lipid metabolism while simultaneously modulating T‐cell development and immune responses. Moreover, it highlights how cutting‐edge artificial intelligence applications can identify miRNA biomarkers ...
Stefania Oliveto, Nicola Manfrini, Stefano Biffo   +2 more
wiley   +1 more source

Guttate hypopigmentation in Darier disease: A rare presentation

Pigment International
Darier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2.
Aradhana Rout, Ashish Kumar Pandey, Karthi Kishore   +2 more
doaj   +1 more source

Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]

, 2013
BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
core   +2 more sources

Ion channel function of polycystin‐2/polycystin‐1 heteromer revealed by structure‐guided mutagenesis

FEBS Letters, EarlyView.
Mutations in polycystin‐1 (PC1) or polycystin‐2 (PC2) cause autosomal‐dominant polycystic kidney disease (ADPKD). We generated a novel gain‐of‐function PC2/PC1 heteromeric ion channel by mutating pore‐blocking residues. Moreover, we demonstrated that PC2 will preferentially assemble with PC1 to form heteromeric complexes when PC1 is co‐expressed ...
Tobias Staudner, Juthamas Khamseekaew, M. Gregor Madej, Linda Geiges, Bardha Azemi, Christine Ziegler, Christoph Korbmacher, Alexandr V. Ilyaskin   +7 more
wiley   +1 more source