Alstrom Syndrome

Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss, and short stature. Here is the latest research.

May 21, 2020

Senior-Løken syndrome and intracranial hypertension

Ophthalmic Genetics
Su Ann Tay, Andrea L Vincent
June 11, 2020
Open Access

ARF Family GTPases with Links to Cilia

American Journal of Physiology. Cell Physiology
Skylar FisherElizabeth Sztul
June 7, 2020
Review
Open Access

A Proximity Mapping Journey into the Biology of the Mammalian Centrosome/Cilium Complex

Cells
Melis Dilara ArslanhanElif Nur Firat-Karalar
May 27, 2020
Open Access

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

The Journal of Clinical Investigation
Brooke L LatourDan Doherty
May 12, 2020

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins

Human Molecular Genetics
Kayalvizhi MadhivananR Claudio Aguilar
June 9, 2020
Open Access

Functional Analysis of Hydrolethalus Syndrome Protein HYLS1 in Ciliogenesis and Spermatogenesis in Drosophila

Frontiers in Cell and Developmental Biology
Yanan HouQing Wei
May 30, 2020

Rapamycin treatment correlates changes in primary cilia expression with cell cycle regulation in epithelial cells

Biochemical Pharmacology
Maha H JamalSurya M Nauli
June 17, 2020
Review

Developmental and regenerative paradigms of cilia regulated hedgehog signaling

Seminars in Cell & Developmental Biology
Daniel KopinkeSaikat Mukhopadhyay
June 6, 2020
Review
Open Access

NRF2 and Primary Cilia: An Emerging Partnership

Antioxidants
Ana Martin-HurtadoFrancesc R Garcia-Gonzalo
May 22, 2020
Preprint
Open Access

Mutation of NEKL-4/NEK10 and TTLL genes opposes loss of the CCPP-1 deglutamylase and prevents neuronal ciliary degeneration

BioRxiv : the Preprint Server for Biology
K. M. PowerR. O'Hagan
May 10, 2020

Genetic tests aid in counseling of fetuses with cerebellar vermis defects

Prenatal Diagnosis
Lushan LiCan Liao
June 6, 2020
Preprint
Open Access

Acute knockdown of extracellular matrix protein Tinagl1 disrupts heart laterality and pronephric cilia in zebrafish embryonic development

BioRxiv : the Preprint Server for Biology
H. Neiswender, Ellen K. LeMosy
June 24, 2020

Confirming TBC1D32-related ciliopathy in humans

American Journal of Medical Genetics. Part a
Nada Alsahan, Fowzan S Alkuraya
May 11, 2020

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

American Journal of Human Genetics
Benjamin CognéBertrand Isidor
June 1, 2020

Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
Malini MukherjeeKameswaran Surendran
July 6, 2020

Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl Syndrome mice

Human Molecular Genetics
Hervé HussonOxana Ibraghimov-Beskrovnaya
May 21, 2020
Review
Open Access

'Kinesinopathies': emerging role of the kinesin family member genes in birth defects

Journal of Medical Genetics
Silvia Kalantari, Isabel Filges
June 5, 2020
Open Access

LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation

The Journal of Cell Biology
João GonçalvesLaurence Pelletier

Sign up to follow this feed and discover related papers.

Related Feeds

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS & FTD: TDP-43

ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

ALS - Pathogenic Mechanisms

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS - Phenotypes

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here are the latest discoveries pertaining to this disease.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS therapies here.

ALS: Transposon de-silencing

Transposon silencing is a form of transcriptional gene silencing. These gene silencing mechanisms are impaired in Amyotrophic lateral sclerosis (ALS). Here are the latest discoveries pertaining to transposon silencing and this disease.

Age-related Dementia

Age-related dementia (Alzheimer's disease) results from the destructive impact of the pulse on cerebral vasculature. Evidence is reviewed that the neuropathology of the dementia is caused by the breakdown of small cerebral vessels (silent microbleeds), that the microbleeds result from pulse-induced damage to the cerebral vessels, and that pulse becomes increasingly destructive with age, because of the age-related stiffening of the aorta and great arteries, which causes an increase in the intensity of the pressure pulse. Discover the latest research on age-related dementia here.

© 2020 Meta ULC. All rights reserved
/feed-previews/alstrom-syndrome/50299801-6b86-4d45-a678-6f10c1373e29