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Anthony Antonellis

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Chemicals & Drugs

Physiology

Mutation

Concepts & Ideas

Living Beings

Disorders

Anatomy

Melanocytes

Genes & Molecular Sequences

Conserved Sequence

Procedures

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TOP 3
Loftus Stacie K; Antonellis Anthony; Matera Ivana; Renaud Gabriel; Baxter Laura L; Reid Duncan; Wolfsberg Tyra G; Chen Yidong; Wang Chenwei; Prasad Megana K; Bessling Seneca L; McCallion Andrew S; Green Eric D; Bennett Dorothy C; Pavan William J
Gpnmb is a melanoblast-expressed, MITF-dependent gene.
Brewer Megan; Changi Febriani; Antonellis Anthony; Fischbeck Kurt; Polly Patsie; Nicholson Garth; Kennerson Marina
Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.
Dutton James R; Antonellis Anthony; Carney Thomas J; Rodrigues Frederico S L M; Pavan William J; Ward Andrew; Kelsh Robert N
An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.

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All Publications

2009: Loftus Stacie K; Antonellis Anthony; Matera Ivana; Renaud Gabriel; Baxter Laura L; Reid Duncan; Wolfsberg Tyra G; Chen Yidong; Wang Chenwei; Prasad Megana K; Bessling Seneca L; McCallion Andrew S; Green Eric D; Bennett Dorothy C; Pavan William J
Gpnmb is a melanoblast-expressed, MITF-dependent gene.
Pigment cell & melanoma research 2009;22(1):99-110.
2008: Brewer Megan; Changi Febriani; Antonellis Anthony; Fischbeck Kurt; Polly Patsie; Nicholson Garth; Kennerson Marina
Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.
Neurogenetics 2008;9(3):191-5.
2008: Dutton James R; Antonellis Anthony; Carney Thomas J; Rodrigues Frederico S L M; Pavan William J; Ward Andrew; Kelsh Robert N
An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.
BMC developmental biology 2008;8():105.
2008: Antonellis Anthony; Huynh Jimmy L; Lee-Lin Shih-Queen; Vinton Ryan M; Renaud Gabriel; Loftus Stacie K; Elliot Gene; Wolfsberg Tyra G; Green Eric D; McCallion Andrew S; Pavan William J
Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.
PLoS genetics 2008;4(9):e1000174.
2008: Antonellis Anthony; Green Eric D
The role of aminoacyl-tRNA synthetases in genetic diseases.
Annual review of genomics and human genetics 2008;9():87-107.
2006: Antonellis Anthony; Lee-Lin Shih-Queen; Wasterlain Amy; Leo Paul; Quezado Martha; Goldfarb Lev G; Myung Kyungjae; Burgess Shawn; Fischbeck Kenneth H; Green Eric D
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(41):10397-406.
2006: Riazuddin Saima; Khan Shaheen N; Ahmed Zubair M; Ghosh Manju; Caution Kyle; Nazli Sabiha; Kabra Madhulika; Zafar Ahmad U; Chen Kevin; Naz Sadaf; Antonellis Anthony; Pavan William J; Green Eric D; Wilcox Edward R; Friedman Penelope L; Morell Robert J; Riazuddin Sheikh; Friedman Thomas B
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
American journal of human genetics 2006;78(1):137-43.
2006: Antonellis Anthony; Bennett William R; Menheniott Trevelyan R; Prasad Arjun B; Lee-Lin Shih-Queen; Green Eric D; Paisley Derek; Kelsh Robert N; Pavan William J; Ward Andrew
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome.
Human molecular genetics 2006;15(2):259-71.
2005: Sivakumar Kumaraswamy; Kyriakides Theodoros; Puls Imke; Nicholson Garth A; Funalot Benoît; Antonellis Anthony; Sambuughin Nyamkhishig; Christodoulou Kyproula; Beggs John L; Zamba-Papanicolaou Eleni; Ionasescu Victor; Dalakas Marinos C; Green Eric D; Fischbeck Kenneth H; Goldfarb Lev G
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Brain : a journal of neurology 2005;128(Pt 10):2304-14.
2005: Portnoy Matthew E; McDermott Kelly J; Antonellis Anthony; Margulies Elliott H; Prasad Arjun B; Kingsley David M; Green Eric D; Mortlock Douglas P
Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer.
Genomics 2005;86(3):295-305.
2004: Cannons Jennifer L; Yu Li J; Hill Brenna; Mijares Lilia A; Dombroski Derek; Nichols Kim E; Antonellis Anthony; Koretzky Gary A; Gardner Kevin; Schwartzberg Pamela L
SAP regulates T(H)2 differentiation and PKC-theta-mediated activation of NF-kappaB1.
Immunity 2004;21(5):693-706.
2004: Jiao Zhongxian; Mollaaghababa Ramin; Pavan William J; Antonellis Anthony; Green Eric D; Hornyak Thomas J
Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2004;17(4):352-62.
2003: Antonellis Anthony; Ellsworth Rachel E; Sambuughin Nyamkhishig; Puls Imke; Abel Annette; Lee-Lin Shih-Queen; Jordanova Albena; Kremensky Ivo; Christodoulou Kyproula; Middleton Lefkos T; Sivakumar Kumaraswamy; Ionasescu Victor; Funalot Benoit; Vance Jeffery M; Goldfarb Lev G; Fischbeck Kenneth H; Green Eric D
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
American journal of human genetics 2003;72(5):1293-9.
2002: Klupa Tomasz; Warram James H; Antonellis Anthony; Pezzolesi Marcus; Nam Moonsuk; Malecki Maciej T; Doria Alessandro; Rich Stephen S; Krolewski Andrzej S
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.
Diabetes care 2002;25(12):2292-301.
2002: Etzioni Amos; Sturla Laura; Antonellis Anthony; Green Eric D; Gershoni-Baruch Ruth; Berninsone Patricia M; Hirschberg Carlos B; Tonetti Michela
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.
American journal of medical genetics 2002;110(2):131-5.
2002: Loftus Stacie K; Larson Denise M; Baxter Laura L; Antonellis Anthony; Chen Yidong; Wu Xufeng; Jiang Yuan; Bittner Michael; Hammer John A; Pavan William J
Mutation of melanosome protein RAB38 in chocolate mice.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(7):4471-6.
2002: Antonellis Anthony; Rogus John J; Canani Luis H; Makita Yuchiro; Pezzolesi Marcus G; Nam MoonSuk; Ng Daniel; Moczulski Dariusz; Warram James H; Krolewski Andrzej S
A method for developing high-density SNP maps and its application at the type 1 angiotensin II receptor (AGTR1) locus.
Genomics 2002;79(3):326-32.
2000: Moczulski D K; Scott L; Antonellis A; Rogus J J; Rich S S; Warram J H; Krolewski A S
Aldose reductase gene polymorphisms and susceptibility to diabetic nephropathy in Type 1 diabetes mellitus.
Diabetic medicine : a journal of the British Diabetic Association 2000;17(2):111-8.
1999: Malecki M T; Jhala U S; Antonellis A; Fields L; Doria A; Orban T; Saad M; Warram J H; Montminy M; Krolewski A S
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
Nature genetics 1999;23(3):323-8.
1999: Plengvidhya N; Antonellis A; Wogan L T; Poleev A; Borgschulze M; Warram J H; Ryffel G U; Krolewski A S; Doria A
Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetes.
Diabetes 1999;48(10):2099-102.
1999: Malecki M T; Yang Y; Antonellis A; Curtis S; Warram J H; Krolewski A S
Identification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus.
Diabetic medicine : a journal of the British Diabetic Association 1999;16(3):193-200.
1998: Moczulski D K; Rogus J J; Antonellis A; Warram J H; Krolewski A S
Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: results of novel discordant sib-pair analysis.
Diabetes 1998;47(7):1164-9.
1998: Malecki M T; Antonellis A; Casey P; Ji L; Wantman M; Warram J H; Krolewski A S
Exclusion of the hepatocyte nuclear factor 4alpha as a candidate gene for late-onset NIDDM linked with chromosome 20q.
Diabetes 1998;47(6):970-2.

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Anthony Antonellis

Research Profile (preview)

Chemicals & Drugs

Physiology

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