Francesco Brancati Selected Research

Syndactyly (Polysyndactyly)

1/2022	RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
8/2014	Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
8/2010	Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

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Francesco Brancati Research Topics

Disease

5	Ciliopathies 07/2010 - 09/2009
3	Syndactyly (Polysyndactyly) 01/2022 - 08/2010
3	Agenesis of Cerebellar Vermis 01/2012 - 06/2006
2	Neoplasms (Cancer) 01/2022 - 07/2008
2	Amenorrhea 01/2021 - 12/2017
2	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 01/2020 - 01/2017
2	Myotonic Dystrophy (Dystrophia Myotonica) 01/2017 - 08/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 08/2015 - 02/2015
2	Ectodermal Dysplasia (Aplasia Cutis Congenita) 08/2014 - 08/2010
2	Zlotogora-Ogur syndrome 08/2014 - 08/2010
2	Cleft Lip (Harelip) 08/2014 - 08/2010
2	Retinal Degeneration 02/2010 - 09/2007
1	Craniosynostoses (Craniosynostosis) 01/2022
1	Epilepsy (Aura) 01/2021
1	Infections 10/2020
1	Marfan Syndrome (Marfan's Syndrome) 02/2020
1	Primary Ovarian Insufficiency 01/2020
1	Multiple Hereditary Exostoses (Hereditary Multiple Exostoses) 01/2019
1	Ulcer 01/2019
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2019
1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 12/2017
1	Delayed Puberty 12/2017
1	Ganglion Cysts (Ganglion) 01/2017
1	Niemann-Pick Diseases (Niemann Pick Disease) 04/2016
1	Malformations of Cortical Development 02/2016
1	congenital fibrosis of the extraocular muscles 02/2016
1	Thalassemia 08/2015
1	Cystic Fibrosis (Mucoviscidosis) 08/2015
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 08/2015
1	Adams Oliver syndrome 08/2015
1	Type 1D Limb-Girdle Muscular Dystrophy 07/2015
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 07/2015
1	Muscular Diseases (Myopathy) 07/2015
1	Seizures (Absence Seizure) 06/2015
1	KBG syndrome 02/2015
1	Familial Partial Lipodystrophy (Dunnigan Syndrome) 12/2014
1	Lipodystrophy 12/2014
1	Ablepharon macrostomia syndrome 12/2013
1	Fraser Syndrome 12/2013
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 11/2013
1	recessive Cutis laxa 11/2013
1	Type IIB Autosomal Recessive Cutis Laxa 11/2013
1	Muscle Hypotonia (Hypotonia) 11/2013
1	Cutis Laxa 09/2012
1	Hyperammonemia 09/2012
1	Primary Myelofibrosis (Myelosclerosis) 08/2012
1	Primary Hypertrophic Osteoarthropathy (Hypertrophic Osteoarthropathy, Primary) 08/2012
1	Cohen syndrome 10/2010
1	Schwartz-Lelek syndrome 04/2010
1	Conductive Hearing Loss 04/2010
1	Kidney Diseases (Kidney Disease) 02/2010
1	Blindness (Hysterical Blindness) 02/2010
1	Gerodermia osteodysplastica 12/2008
1	Parkinsonian Disorders (Parkinsonism) 09/2008
1	Hereditary Hemorrhagic Telangiectasia 07/2008

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 01/2022 - 06/2006
4	NectinsIBA 10/2020 - 08/2010
4	Retinaldehyde (Retinal)IBA 01/2020 - 09/2007
2	Phosphotransferases (Kinase)IBA 01/2022 - 09/2008
2	GonadotropinsIBA 01/2021 - 12/2017
2	Protein Isoforms (Isoforms)IBA 01/2021 - 01/2019
2	Nonsense Codon (Nonsense Mutation)IBA 01/2019 - 12/2014
2	TubulinIBA 02/2016 - 01/2012
2	Proline (L-Proline)FDA Link 11/2013 - 09/2012
2	Oxidoreductases (Dehydrogenase)IBA 11/2013 - 09/2012
1	Protein Kinases (Protein Kinase)IBA 01/2022
1	Histone Deacetylases (Histone Deacetylase)IBA 01/2022
1	Fibrillin-1IBA 02/2020
1	Peptides (Polypeptides)IBA 01/2020
1	DystoninIBA 01/2019
1	SteroidsIBA 12/2017
1	AndrogensIBA 12/2017
1	Hydrocortisone (Cortisol)FDA LinkGeneric 12/2017
1	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 12/2017
1	Progesterone FDA LinkGeneric 12/2017
1	3' Untranslated Regions (3' UTR)IBA 01/2017
1	7-ketocholesterolIBA 04/2016
1	Notch1 ReceptorIBA 08/2015
1	Cre recombinaseIBA 08/2015
1	Amino Acids FDA Link 07/2015
1	Contrast MediaIBA 06/2015
1	GadoliniumIBA 06/2015
1	Sterol Esterase (Hormone-Sensitive Lipase)IBA 12/2014
1	Proto-Oncogene Proteins c-fos (FRAs)IBA 12/2013
1	delta-1-pyrroline-5-carboxylateIBA 11/2013
1	Arginine (L-Arginine)FDA Link 09/2012
1	OrnithineIBA 09/2012
1	CitrullineIBA 09/2012
1	ProstaglandinsIBA 08/2012
1	Cell Adhesion MoleculesIBA 08/2010
1	diphosphoric acid (pyrophosphoric acid)IBA 04/2010
1	Membrane Proteins (Integral Membrane Proteins)IBA 04/2010
1	Phosphatidylinositols (Phosphatidylinositol)IBA 09/2009
1	Inositol (Myoinositol)IBA 09/2009
1	Golgi Matrix ProteinsIBA 12/2008
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 09/2008
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 07/2008
1	TensinsIBA 07/2008

Therapy/Procedure

2	Ligation 10/2010 - 11/2007
1	Surgical Amputation (Amputations) 01/2019