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TGFA: exon–intron structure and evaluation as a candidate gene for Alström syndrome.
Published in:
Clinical Genetics, 1999, v. 55, n. 1, p. 61, doi. 10.1034/j.1399-0004.1999.550111.x
By:
- Collin, Gayle B.;
- Marshall, Jan D.;
- Naggert, Jurgen K.;
- Nishima, Patsy M.
Publication type:
Article
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 12005, doi. 10.3390/ijms231912005
By:
- Hyde, Lillian F.;
- Kong, Yang;
- Zhao, Lihong;
- Rao, Sriganesh Ramachandra;
- Wang, Jieping;
- Stone, Lisa;
- Njaa, Andrew;
- Collin, Gayle B.;
- Krebs, Mark P.;
- Chang, Bo;
- Fliesler, Steven J.;
- Nishina, Patsy M.;
- Naggert, Jürgen K.
Publication type:
Article
A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2220, doi. 10.3390/ijms23042220
By:
- Collin, Gayle B.;
- Shi, Lanying;
- Yu, Minzhong;
- Akturk, Nurten;
- Charette, Jeremy R.;
- Hyde, Lillian F.;
- Weatherly, Sonia M.;
- Pera, Martin F.;
- Naggert, Jürgen K.;
- Peachey, Neal S.;
- Nishina, Patsy M.;
- Krebs, Mark P.
Publication type:
Article
Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1615, doi. 10.3390/ijms23031615
By:
- Gogna, Navdeep;
- Weatherly, Sonia;
- Zhao, Fuxin;
- Collin, Gayle B.;
- Pinkney, Jai;
- Stone, Lisa;
- Naggert, Jürgen K.;
- Carter, Gregory W.;
- Nishina, Patsy M.
Publication type:
Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 1, p. 51, doi. 10.1038/jhg.2014.101
By:
- Ozantürk, Ayşegül;
- Marshall, Jan D;
- Collin, Gayle B;
- Düzenli, Selma;
- Marshall, Robert P;
- Candan, Şükrü;
- Tos, Tülay;
- Esen, İhsan;
- Taşkesen, Mustafa;
- Çayır, Atilla;
- Öztürk, Şükrü;
- Üstün, İhsan;
- Ataman, Esra;
- Karaca, Emin;
- Özdemir, Taha Reşid;
- Erol, İlknur;
- Eroğlu, Fehime Kara;
- Torun, Deniz;
- Parıltay, Erhan;
- Yılmaz-Güleç, Elif
Publication type:
Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 1, p. 1, doi. 10.1038/jhg.2014.85
By:
- Ozantürk, Ayşegül;
- Marshall, Jan D;
- Collin, Gayle B;
- Düzenli, Selma;
- Marshall, Robert P;
- Candan, Şükrü;
- Tos, Tülay;
- Esen, İhsan;
- Taşkesen, Mustafa;
- Çayır, Atilla;
- Öztürk, Şükrü;
- Üstün, İhsan;
- Ataman, Esra;
- Karaca, Emin;
- Özdemir, Taha Reşid;
- Erol, İlknur;
- Eroğlu, Fehime Kara;
- Torun, Deniz;
- Parıltay, Erhan;
- Yılmaz-Güleç, Elif
Publication type:
Article
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Published in:
Nature Genetics, 2002, v. 31, n. 1, p. 74, doi. 10.1038/ng867
By:
- Collin, Gayle B.;
- Marshall, Jan D.;
- Ikeda, Akihiro;
- So, W. Venus;
- Russell-Eggitt, Isabelle;
- Maffei, Pietro;
- Beck, Sebastian;
- Boerkoel, Cornelius F.;
- Sicolo, Nicola;
- Martin, Mitchell;
- Nishina, Patsy M.;
- Naggert, Jürgen K.
Publication type:
Article
Susceptibility to testicular germ-cell tumours in a 129.MOLF-Chr 19 chromosome substitution strain.
Published in:
Nature Genetics, 1999, v. 23, n. 2, p. 237, doi. 10.1038/13874
By:
- Matin, Angabin;
- Collin, Gayle B.;
- Asada, Yoshinobu;
- Varnum, Don;
- Nadeau, Joseph H.
Publication type:
Article
Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs.
Published in:
PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110299
By:
- Soundararajan, Ramani;
- Won, Jungyeon;
- Stearns, Timothy M.;
- Charette, Jeremy R.;
- Hicks, Wanda L.;
- Collin, Gayle B.;
- Naggert, Jürgen K.;
- Krebs, Mark P.;
- Nishina, Patsy M.
Publication type:
Article
GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1GT/GT, a Mouse Model for Obesity and Insulin Resistance.
Published in:
PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109540
By:
- Favaretto, Francesca;
- Milan, Gabriella;
- Collin, Gayle B.;
- Marshall, Jan D.;
- Stasi, Fabio;
- Maffei, Pietro;
- Vettor, Roberto;
- Naggert, Jürgen K.
Publication type:
Article
The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway.
Published in:
PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037925
By:
- Collin, Gayle B.;
- Marshall, Jan D.;
- King, Benjamin L.;
- Milan, Gabriella;
- Maffei, Pietro;
- Jagger, Daniel J.;
- Naggert, Jürgen K.
Publication type:
Article
LARGE Expression Augments the Glycosylation of Glycoproteins in Addition to - α-Dystroglycan Conferring Laminin Binding.
Published in:
PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019081
By:
- Zulato, Elisabetta;
- Favaretto, Francesca;
- Veronese, Caterina;
- Campanaro, Stefano;
- Marshall, Jan D.;
- Romano, Sara;
- Cabrelle, Anna;
- Collin, Gayle B.;
- Zavan, Barbara;
- Belloni, Anna S.;
- Rampazzo, Enrica;
- Naggert, Jürgen K.;
- Abatangelo, Giovanni;
- Sicolo, Nicola;
- Maffei, Pietro;
- Milan, Gabriella;
- Vettor, Roberto
Publication type:
Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 485, doi. 10.1038/ejhg.2010.207
By:
- Pereiro, Ines;
- Hoskins, Bethan E.;
- Marshall, Jan D.;
- Collin, Gayle B.;
- Naggert, Jürgen K.;
- Piñeiro-Gallego, Teresa;
- Oitmaa, Eneli;
- Katsanis, Nicholas;
- Valverde, Diana;
- Beales, Philip L.
Publication type:
Article
Effect of Metformin and Rosiglitazone in a Prepubertal Boy with Alström Syndrome.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 9, p. 1045, doi. 10.1515/jpem.2007.20.9.1045
By:
- Sinha, Sunil K.;
- Bhangoo, Amrit;
- Anhalt, Henry;
- Maclaren, Noel;
- Marshall, Jan D.;
- Collin, Gayle B.;
- Naggert, Jürgen K.;
- Ten, Svetlana
Publication type:
Article
A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e.
Published in:
Frontiers in Molecular Neuroscience, 2023, v. 15, p. 1, doi. 10.3389/fnmol.2022.1080136
By:
- Naggert, Anna S. E. N.;
- Collin, Gayle B.;
- Wang, Jieping;
- Krebs, Mark P.;
- Chang, Bo
Publication type:
Article
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Published in:
Nature Communications, 2014, v. 5, n. 3, p. 3416, doi. 10.1038/ncomms4416
By:
- Shenje, Lincoln T.;
- Andersen, Peter;
- Halushka, Marc K.;
- Lui, Cecillia;
- Fernandez, Laviel;
- Collin, Gayle B.;
- Amat-Alarcon, Nuria;
- Meschino, Wendy;
- Cutz, Ernest;
- Chang, Kenneth;
- Yonescu, Raluca;
- Batista, Denise A. S.;
- Chen, Yan;
- Chelko, Stephen;
- Crosson, Jane E.;
- Scheel, Janet;
- Vricella, Luca;
- Craig, Brian D.;
- Marosy, Beth A.;
- Mohr, David W.
Publication type:
Article
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 24, p. 6958, doi. 10.1093/hmg/ddv399
By:
- Collin, Gayle B.;
- Hubmacher, Dirk;
- Charette, Jeremy R.;
- Hicks, Wanda L.;
- Stone, Lisa;
- Minzhong Yu;
- Naggert, Jürgen K.;
- Krebs, Mark P.;
- Peachey, Neal S.;
- Apte, Suneel S.;
- Nishina, Patsy M.
Publication type:
Article
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Published in:
Cells (2073-4409), 2020, v. 9, n. 4, p. 931, doi. 10.3390/cells9040931
By:
- Collin, Gayle B.;
- Gogna, Navdeep;
- Chang, Bo;
- Damkham, Nattaya;
- Pinkney, Jai;
- Hyde, Lillian F.;
- Stone, Lisa;
- Naggert, Jürgen K.;
- Nishina, Patsy M.;
- Krebs, Mark P.
Publication type:
Article
Alström Syndrome: Mutation Spectrum of ALMS1.
Published in:
Human Mutation, 2015, v. 36, n. 7, p. 660, doi. 10.1002/humu.22796
By:
- Marshall, Jan D.;
- Muller, Jean;
- Collin, Gayle B.;
- Milan, Gabriella;
- Kingsmore, Stephen F.;
- Dinwiddie, Darrell;
- Farrow, Emily G.;
- Miller, Neil A.;
- Favaretto, Francesca;
- Maffei, Pietro;
- Dollfus, Hélène;
- Vettor, Roberto;
- Naggert, Jürgen K.
Publication type:
Article
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Published in:
Human Mutation, 2007, v. 28, n. 11, p. 1114, doi. 10.1002/humu.20577
By:
- Marshall, Jan D.;
- Hinman, Elizabeth G.;
- Collin, Gayle B.;
- Beck, Sebastian;
- Cerqueira, Rita;
- Maffei, Pietro;
- Milan, Gabriella;
- Zhang, Weidong;
- Wilson, David I.;
- Hearn, Tom;
- Tavares, Purificação;
- Vettor, Roberto;
- Veronese, Caterina;
- Martin, Mitchell;
- So, W. Venus;
- Nishina, Patsy M.;
- Naggert, Jürgen K.
Publication type:
Article
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.
Published in:
PLoS Genetics, 2022, v. 18, n. 6, p. 1, doi. 10.1371/journal.pgen.1009798
By:
- Weatherly, Sonia M.;
- Collin, Gayle B.;
- Charette, Jeremy R.;
- Stone, Lisa;
- Damkham, Nattaya;
- Hyde, Lillian F.;
- Peterson, James G.;
- Hicks, Wanda;
- Carter, Gregory W.;
- Naggert, Jürgen K.;
- Krebs, Mark P.;
- Nishina, Patsy M.
Publication type:
Article
Testicular teratocarcinogenesis in mice - a review.
Published in:
APMIS, 1998, v. 106, n. 1-6, p. 174, doi. 10.1111/j.1699-0463.1998.tb01333.x
By:
- MATIN, ANGABIN;
- COLLIN, GAYLE B.;
- VARNUM, DON S.;
- NADEAU, JOSEPH H.
Publication type:
Article
Characterization of the IGF system in 15 patients with Alström syndrome.
Published in:
Clinical Endocrinology, 2007, v. 66, n. 2, p. 269, doi. 10.1111/j.1365-2265.2007.02721.x
By:
- Maffei, Pietro;
- Boschetti, Mara;
- Marshall, Jan D.;
- Paisey, Richard B.;
- Beck, Sebastian;
- Resmini, Eugenia;
- Collin, Gayle B.;
- Naggert, Jürgen K.;
- Milan, Gabriella;
- Vettor, Roberto;
- Minuto, Francesco;
- Sicolo, Nicola;
- Barreca, Antonella
Publication type:
Article
Homozygosity Mapping of Alström Syndrome to Chromosome 2p.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 2, p. 213, doi. 10.1093/hmg/6.2.213
By:
- Collin, Gayle B.;
- Marshall, Jan D.;
- Cardon, Lon R.;
- Nishina, Patsy M.
Publication type:
Article
Mouse models of human ocular disease for translational research.
Published in:
PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183837
By:
- Krebs, Mark P.;
- Collin, Gayle B.;
- Hicks, Wanda L.;
- Yu, Minzhong;
- Charette, Jeremy R.;
- Shi, Lan Ying;
- Wang, Jieping;
- Naggert, Jürgen K.;
- Peachey, Neal S.;
- Nishina, Patsy M.
Publication type:
Article
The Human Germ Cell-Less (HGCL): A Candidate Gene for Alström Syndrome.
Published in:
International Journal on Disability & Human Development (De Gruyter), 2001, v. 2, n. 1, p. 29, doi. 10.1515/ijdhd.2001.2.1.29
By:
- Nili, Einav;
- Cojocaru, Gady S.;
- Collin, Gayle B.;
- Nishina, Patsy M.;
- Brok-Simoni, Frida;
- Amariglio, Ninette;
- Simon, Amos J.;
- Rechavi, Gideon
Publication type:
Article

Found: 26

TGFA: exon–intron structure and evaluation as a candidate gene for Alström syndrome.

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

Susceptibility to testicular germ-cell tumours in a 129.MOLF-Chr 19 chromosome substitution strain.

Gene Profiling of Postnatal Mfrp<sup>rd6</sup> Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs.

GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1<sup>GT/GT</sup>, a Mouse Model for Obesity and Insulin Resistance.

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway.

LARGE Expression Augments the Glycosylation of Glycoproteins in Addition to - α-Dystroglycan Conferring Laminin Binding.

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Effect of Metformin and Rosiglitazone in a Prepubertal Boy with Alström Syndrome.

A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e.

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.

Alström Syndrome: Mutation Spectrum of ALMS1.

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1<sup>rd8</sup> mouse model.

Testicular teratocarcinogenesis in mice - a review.

Characterization of the IGF system in 15 patients with Alström syndrome.

Homozygosity Mapping of Alström Syndrome to Chromosome 2p.

Mouse models of human ocular disease for translational research.

The Human Germ Cell-Less (HGCL): A Candidate Gene for Alström Syndrome.