Ciliopathies | NEJM
★ ★ ★ ☆ ☆Review Article from The New England Journal of Medicine — Ciliopathies
Ciliopathies: an expanding disease spectrum
★ ★ ★ ★ ☆6-1-2011 · Ciliopathies comprise a group of disorders ... signal transduction in the manifestation of ciliopathy ... later in this review.
Genes and molecular pathways underpinning ciliopathies ...
★ ★ ★ ★ ★12-7-2017 · Dysfunction of cilia is being found to cause increasing numbers of diseases that are known as ciliopathies. ... An outstanding review article, ...
Ciliopathy - an overview | ScienceDirect Topics
★ ★ ☆ ☆ ☆Here we will review the current data on how cilia are thought to be involved in energy ... Ciliopathies. The term ciliopathy describes a group of genetic ...
Review: Skeletal ciliopathies | Request PDF
★ ★ ★ ★ ★Request PDF on ResearchGate | Review: Skeletal ciliopathies | Molecular defects interfering with formation and maintenance of primary cilia cause a heterogeneous ...
Ciliopathies - PubMed Central (PMC)
★ ★ ★ ☆ ☆21-4-2011 · Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl ...
Ciliopathies - Molecular and Cellular Pediatrics
★ ★ ★ ☆ ☆19-5-2015 · According to the underlying cellular pathophysiology, ... we refer to some of the excellent reviews on ciliopathies [1, 5-7]. Figure 1.
The Ciliopathies: An Emerging Class of Human Genetic ...
★ ★ ★ ★ ☆The Ciliopathies: An Emerging Class of Human Genetic Disorders. ... First published online as a Review in Advance on May 24, 2006 https: ...
Potential drug to cure Ciliopathies - Drug Target Review
★ ★ ★ ★ ☆30-8-2018 · Potential drug to cure Ciliopathies - a potential treatment that will be a foundation for developing drugs for various genetic disorders
Review article - NASPGHAN
★ ★ ★ ☆ ☆The new engl and journal of medicine n engl j med 364;16 nejm.org april 21, 2011 1533 Mechanisms of Disease Robert S. Schwartz, M.D., Editor Review article
Ciliopathies: Does HDAC6 Represent a New Therapeutic Target?
★ ★ ★ ★ ☆Review Ciliopathies: Does HDAC6 Represent a New Therapeutic Target? Fan Yu,1 Jie Ran,1 and Jun Zhou1,* Cilia are cellular appendages with critical roles in sensing ...
REVIEW A systems-biology approach to understanding the ...
★ ★ ★ ★ ☆prominent situs inversus (a condition in which the normal positions of organs are reversed). Non-motile ciliopathies show prominent but mixed features in
Ciliopathies: Does HDAC6 Represent a New Therapeutic ...
★ ★ ★ ☆ ☆Ciliopathies: Does HDAC6 Represent a New Therapeutic ... In this review, ... HDAC6 represents a particularly attractive target for the treatment of ciliopathies, ...
When cilia go bad: cilia defects and ciliopathies | Nature ...
★ ★ ★ ☆ ☆1-11-2007 · Review Article ... cilia and their motile and sensory functions. His current research is focused on disease mechanisms involved in various ciliopathies, ...
Ciliopathies: an Update - IBIMA Publishing
★ ★ ★ ☆ ☆This review summarizes the recent advances in these interesting conditions ... Ciliopathies: clinical manifestations, syndromes and genes involved
Ciliopathies - News, Articles, Whitepapers - Drug Target ...
★ ★ ★ ☆ ☆News stories, articles and whitepapers referencing Ciliopathies on Drug Target Review
Book Review - ResearchGate
★ ★ ★ ★ ☆Book Review Ciliopathies: A reference forclinicians. Thomas D. Kenny and Philip L. Beales This is a multi-author book encompassing 14 chapters on
REVIEW Open Access Photoreceptor sensory cilia and ...
★ ★ ★ ★ ★REVIEW Open Access Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins Rivka A Rachel, Tiansen Li and Anand Swaroop*
Ciliopathies eBook by - 9780191633379 | Rakuten Kobo
★ ★ ★ ★ ★Read "Ciliopathies A reference for clinicians" by available from Rakuten Kobo. Sign up today and get $5 off your first purchase. The ciliopathies are a group of rare ...
Book Review: Ciliopathies: a reference for clinicians ...
★ ★ ★ ★ ☆Editors: Thomas D. Kenny and Philip L. Beales Publisher: Oxford University Press Book Review by: Nano Khilnani. This book shows us that it is important for physicians ...
Ciliopathies - Thomas D. Kenny; Philip L. Beales - Oxford ...
★ ★ ★ ★ ☆The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia.
The ciliopathies in neuronal development: a clinical ...
★ ★ ★ ★ ☆The ciliopathies in neuronal development: ... MRI of the brain and thorough review of sagittal and axial images of the brainstem for the MTS with cerebellar vermis ...
Ciliopathy – Alstrom Syndrome
★ ★ ★ ★ ★Over 20 ciliopathies have been identified and more are suspected, ... The Ciliopathy Alliance. ... Next Review: March 2019.
Motile and non‐motile cilia in human pathology: from ...
★ ★ ★ ☆ ☆Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia dysfunction that form an ... Many reviews are available on the structure and ...
The Retinal Ciliopathies: Ophthalmic Genetics: Vol 28, No 3
★ ★ ★ ★ ☆The concept of “retinal ciliopathies” brings to attention the importance of further molecular analysis of this organelle as well as provides a ... Review Article.
Ciliopathies eBook by | Rakuten Kobo
★ ★ ☆ ☆ ☆The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defe ... Please review your cart. ...
Craniofacial ciliopathies: An expanding oral disease ...
★ ★ ☆ ☆ ☆Craniofacial ciliopathies: An expanding oral disease spectrum - a review of literature and a case report Jigna V Raja, ML Asha, G Arun Kumar, Anupama V Sattigeri, ...
The ciliopathies: an emerging class of human genetic ...
★ ★ ★ ★ ☆The ciliopathies: an emerging class of human genetic disorders. ... an emerging class of human genetic disorders. Published. Journal Article (Review)
Smelling the roses and seeing the light: gene therapy for ...
★ ★ ★ ★ ☆gene therapy for ciliopathies Jeremy C. McIntyre, Corey L. Williams, and Jeffrey R. Martens Department ... review highlights these advances, as well as the chal-
Mouse models of ciliopathies: the state of the art
★ ★ ★ ★ ★known as the ciliopathies (Table 1) and have been the subject of many recent reviews ... Although we discuss all kinds of mouse mutants in this review, for
Zebrafish as models to study ciliopathies of the eye and ...
★ ★ ★ ★ ☆we review the advantages of the zebrafish as a vertebrate model for human ... ciliopathies can arise in nearly all tissue types during development and
Nephronophthisis-associated ciliopathies. | Scholars@Duke
★ ★ ☆ ☆ ☆Nephronophthisis-associated ciliopathies. Journal Article (Review) Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most ...
Nature Reviews - Nature Reviews Molecular Cell Biology ...
★ ★ ☆ ☆ ☆Nature Reviews Molecular Cell Biology: Motile and non-motile primary cilia are nearly ubiquitous cellular organelles. Dysfunction of cilia is being found...
Liver and kidney disease in ciliopathies — Johns Hopkins ...
★ ★ ☆ ☆ ☆/ Liver and kidney disease in ciliopathies ... the frequency and rate of progression to renal failure varies considerably in other ciliopathies. This review focuses ...
Recent advances in the molecular pathology, cell biology ...
★ ★ ★ ★ ★biology and genetics of ciliopathies M Adams, 1U M Smith,2 C V Logan, C A Johnson ... this review is to assess recent insights into the structure,
Ciliopathies: A reference for clinicians: 9780199658763 ...
★ ★ ★ ☆ ☆Ciliopathies: A reference for clinicians: ... The ciliopathies are a group of rare diseases that often affect multiple systems within the body, ... Editorial Reviews ...