Mutations in different components of FGF signaling in LADD syndrome

Nature Genetics
Edyta RohmannBernd Wollnik

Abstract

Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling.

References

Sep 1, 1973·The Journal of Pediatrics·D W HollisterD L Rimoin
May 1, 1967·American Journal of Ophthalmology·W J Levy
May 1, 1996·Nature Genetics·D M MoloneyA O Wilkie
Mar 11, 2000·American Journal of Human Genetics·R L GlaserE W Jabs
Oct 3, 2002·American Journal of Medical Genetics·Andrew O M WilkieBen C J Hamel
May 3, 2005·Cytokine & Growth Factor Reviews·V P EswarakumarJ Schlessinger
Jul 1, 2005·Nucleic Acids Research·Xavier CoumoulChu-Xia Deng

❮ Previous
Next ❯

Citations

Jul 1, 2008·Pediatric Surgery International·Victoria KrügerMichael Ludwig
May 15, 2012·Nature Genetics·Carine BonnardBruno Reversade
Feb 28, 2009·Nature Reviews. Drug Discovery·Andrew Beenken, Moosa Mohammadi
Jan 11, 2007·European Journal of Human Genetics : EJHG·Miriam EntesarianNiklas Dahl
Jul 5, 2007·European Journal of Human Genetics : EJHG·Muriel Holder-EspinasseSylvie Manouvrier-Hanu
Feb 6, 2010·Proceedings of the National Academy of Sciences of the United States of America·Jae Hyun BaeJoseph Schlessinger
Oct 14, 2010·Journal of Biochemistry·Nobuyuki Itoh, David M Ornitz
Jun 26, 2007·Development, Growth & Differentiation·Nadia Mercader
Feb 11, 2011·BMC Medical Genetics·Saima RiazuddinByung Yoon Choi
Oct 28, 2010·Development·Sara ParsaSaverio Bellusci
Feb 4, 2012·PloS One·Christelle GolzioHeather C Etchevers
Dec 18, 2013·Odontology·Chun-Ying LiOphir D Klein
Dec 7, 2007·Proceedings of the National Academy of Sciences of the United States of America·Erin D LewJoseph Schlessinger
Aug 10, 2010·Annual Review of Genomics and Human Genetics·Dustin BaldridgeBrendan Lee
Apr 9, 2013·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·D Vila PérezA Palomeque Rico
Nov 1, 2011·Journal of the California Dental Association·Carol Anne Murdoch-Kinch
Dec 22, 2015·Seminars in Cell & Developmental Biology·Shahida Moosa, Bernd Wollnik
Nov 17, 2009·Gene Expression Patterns : GEP·Christian N PaxtonGary C Schoenwolf
Mar 5, 2016·American Journal of Human Genetics·James T BennettLaura M McDonell
Sep 20, 2008·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Yeliz GuvenOya Aktoren
Jul 5, 2008·European Journal of Medical Genetics·Isabelle Bailleul-ForestierAlain Verloes
Mar 10, 2016·Clinical Oral Investigations·Figen SeymenJung-Wook Kim
Feb 24, 2007·Seminars in Cell & Developmental Biology·Marja L Mikkola
Sep 13, 2015·Human Molecular Genetics·Stefan Bagheri-FamVincent R Harley
Jan 28, 2015·Developmental Biology·Lisa D UrnessSuzanne L Mansour
Jul 22, 2009·Human Mutation·Pavel KrejciWilliam R Wilcox
Nov 26, 2010·American Journal of Medical Genetics. Part a·Dorothy A FrenzAlan Shanske
Mar 2, 2012·Journal of Cellular Physiology·Xiaolan DuLin Chen
Jul 15, 2015·Human Molecular Genetics·Laura M McDonellSarah L Sawyer
Mar 17, 2015·Wiley Interdisciplinary Reviews. Developmental Biology·David M Ornitz, Nobuyuki Itoh
May 25, 2015·Cytokine & Growth Factor Reviews·Leandro H GalloDaniel J Donoghue
Jun 30, 2011·The Biochemical Journal·Jørgen WescheEllen Margrethe Haugsten
Jun 15, 2011·Developmental Biology·Lisa D UrnessSuzanne L Mansour
Jul 13, 2012·Seminars in Ophthalmology·Lik Thai LimGordon N Dutton
Mar 7, 2015·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Akishi OoiYoh Dobashi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.