The roles of cilia in developmental disorders and disease.

نویسندگان

  • Brent W Bisgrove
  • H Joseph Yost
چکیده

Cilia are highly conserved organelles that have diverse motility and sensory functions. Recent discoveries have revealed that cilia also have crucial roles in cell signaling pathways and in maintaining cellular homeostasis. As such, defects in cilia formation or function have profound effects on the development of body pattern and the physiology of multiple organ systems. By categorizing syndromes that are due to cilia dysfunction in humans and from studies in vertebrate model organisms, molecular pathways that intersect with cilia formation and function have come to light. Here, we summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Ciliary subcompartments: how are they established and what are their functions?

Cilia are conserved subcellular organelles with diverse sensory and developmental roles. Recently, they have emerged as crucial organelles whose dysfunction causes a wide spectrum of disorders called ciliopathies. Recent studies on the pathological mechanisms underlying ciliopathies showed that the ciliary compartment is further divided into subdomains with specific roles in the biogenesis, mai...

متن کامل

Developmental disruptions underlying brain abnormalities in ciliopathies

Primary cilia are essential conveyors of signals underlying major cell functions. Cerebral cortical progenitors and neurons have a primary cilium. The significance of cilia function for brain development and function is evident in the plethora of developmental brain disorders associated with human ciliopathies. Nevertheless, the role of primary cilia function in corticogenesis remains largely u...

متن کامل

The Roles of Primary cilia in Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited genetic disorder that results in progressive renal cyst formation with ultimate loss of renal function and other systemic disorders. These systemic disorders include abnormalities in cardiovascular, portal, pancreatic and gastrointestinal systems. ADPKD is considered to be among the ciliopathy diseases due to the association w...

متن کامل

بررسی میزان شیوع انواع اختلالات فراگیر رشد بر حسب جنسیت در نمونه ای از کودکان ایرانی مراجعه کننده به مراکز درمانی و توانبخشی

Introduction & Objective: According to significance of pervasive developmental disorders (PDD) in children and the increasing rate of its prevalence in referred patients to clinic in recent years and due to absence of any report about the rate of PPD in our country, this study was carried out. The aim of this study was to determine the prevalence of PPD in a sample of Iranian children who refer...

متن کامل

Cilia: Organelles at the Heart of Heart Disease

Genetic disorders, such as heterotaxy, first provided a link between cilia and developmental heart defects. Now, a genetic screen in mice shows that ciliary dysfunction may indeed be the major contributing factor in the etiology of congenital heart disease.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Development

دوره 133 21  شماره 

صفحات  -

تاریخ انتشار 2006