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Items: 1 to 20 of 94

1.
CircALMS1 Alleviates Pulmonary Microvascular Endothelial Cell Dysfunction in Pulmonary Hypertension
Xiaoyi Hu, Yuanyuan Sun, Shang Wang, Hui Zhao, Yaqin Wei, Jiaqi Fu, Yuxia Huang, Wenhui Wu, Jinling Li, Jinming Liu, Sugang Gong, Qinhua Zhao, Lan Wang, Rong Jiang, Xiao Song, Ping Yuan
J Am Heart Assoc. 2024 Mar 19; 13(6): e031867. Published online 2024 Mar 16. doi: 10.1161/JAHA.123.031867
PMCID:
PMC11009991
AbstractArticlePDF–13M
2.
New variants of ALMS1 gene and familial Alström syndrome case series
Isabela Carvalho de Queiroz, Natália Carasek, Luiza Costa Villela Ferreira, Lucas Alves Teixeira Oliveira, Fernando Massa Correia, Thaís Gomes Abrahão Elias, Fayez Bahmad, Jr
Braz J Otorhinolaryngol. 2024 May-Jun; 90(3): 101402. Published online 2024 Feb 22. doi: 10.1016/j.bjorl.2024.101402
PMCID:
PMC10912837
AbstractArticlePDF–3.6M
3.
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family
Salma A. S. Abosabie, Sara A. Abosabie, Jaber Alfaifi, Youssef A. Alqahtani, Ayed A. Shati, Najmah A. Alotaibi, Ohoud A. Alghamdi, Ghadi N. Alotaibi, Abdulrahman A. Baabdullah, Lama K. Kabrah, Naglaa M. Kamal, Mohammed A. M. Oshi, Enas A. A. Abdallah
Mol Genet Genomic Med. 2024 Jan; 12(1): e2314. Published online 2023 Nov 8. doi: 10.1002/mgg3.2314
PMCID:
PMC10767606
AbstractArticlePDF–1.7M
4.
Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes
Brais Bea-Mascato, Eduardo Gómez-Castañeda, Yara E. Sánchez-Corrales, Sergi Castellano, Diana Valverde
Biol Direct. 2023; 18: 84. Published online 2023 Dec 8. doi: 10.1186/s13062-023-00441-2
PMCID:
PMC10704752
AbstractArticlePDF–6.9M
5.
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Wan-Yu Cheng, Mei-Jiao Ma, Shi-Qin Yuan, Xiao-long Qi, Wei-Ning Rong, Xun-Lun Sheng
BMC Ophthalmol. 2022; 22: 386. Published online 2022 Sep 26. doi: 10.1186/s12886-022-02597-3
PMCID:
PMC9511775
AbstractArticlePDF–1.4M
6.
Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men with Both Peyronie’s and Dupuytren’s Disease
Alexandra Dullea, Iakov Efimenko, Fakiha Firdaus, Anthony Griswold, Himanshu Arora, Thomas Masterson, Ranjith Ramasamy
Urology. Author manuscript; available in PMC 2023 Aug 1.
Published in final edited form as: Urology. 2022 Aug; 166: 76–78. Published online 2022 Mar 12. doi: 10.1016/j.urology.2022.02.023
PMCID:
PMC9356975
AbstractArticlePDF–354K
7.
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center
Meryl Waldman, Joan C. Han, Daniela P. Reyes-Capo, Joy Bryant, Kathryn A. Carson, Baris Turkbey, Peter Choyke, Jürgen K. Naggert, William A. Gahl, Jan D. Marshall, Meral Gunay-Aygun
Mol Genet Metab. Author manuscript; available in PMC 2021 Mar 22.
Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 181–191. Published online 2018 Jul 24. doi: 10.1016/j.ymgme.2018.07.010
PMCID:
PMC7984722
AbstractArticlePDF–567K
8.
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde
Genes (Basel) 2021 Feb; 12(2): 282. Published online 2021 Feb 16. doi: 10.3390/genes12020282
PMCID:
PMC7920446
AbstractArticlePDF–1.7M
9.
Association between ALMS 1 variants and early-onset coronary artery disease: a case–control study in Chinese population
Shao-Yan Zhang, Chao Xuan, Yi Wang, Shao-Qiang Zhang, Hui Li, Guo-Wei He, Qing-Wu Tian
Biosci Rep. 2020 Sep 30; 40(9): BSR20193637. Published online 2020 Sep 1. doi: 10.1042/BSR20193637
PMCID:
PMC7463302
AbstractArticlePDF–626K
10.
A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review
Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Shanling Liu, Jing Wang
Mol Med Rep. 2020 Oct; 22(4): 3271–3276. Published online 2020 Jul 31. doi: 10.3892/mmr.2020.11398
PMCID:
PMC7453607
AbstractArticlePDF–660K
11.
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi
BMC Ophthalmol. 2019; 19: 246. Published online 2019 Dec 7. doi: 10.1186/s12886-019-1259-y
PMCID:
PMC6898930
AbstractArticlePDF–8.5M
12.
The phenotypic and molecular genetic spectrum of Alström Syndrome in 44 Turkish kindreds and a literature review of Alström Syndrome in Turkey
Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz-Güleç, Ender Karaca, M. Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Müller, Jürgen K Naggert, Rıza Köksal Özgül
J Hum Genet. Author manuscript; available in PMC 2017 Jun 6.
Published in final edited form as: J Hum Genet. 2015 Jan; 60(1): 1–9. Published online 2014 Oct 9. doi: 10.1038/jhg.2014.85
Correction in:
J Hum Genet. 2015 Jan; 60(1): 51.
PMCID:
PMC5460767
AbstractArticlePDF–485K
13.
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells
Katarina Braune, Ines Volkmer, Martin S. Staege
PLoS One. 2017; 12(1): e0170694. Published online 2017 Jan 30. doi: 10.1371/journal.pone.0170694
PMCID:
PMC5279758
AbstractArticlePDF–3.4M
14.
Alström Syndrome: Mutation spectrum of ALMS1
Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen F. Kingsmore, Darrell Dinwiddie, Emily G. Farrow, Neil A. Miller, Francesca Favaretto, Pietro Maffei, Hélène Dollfus, Roberto Vettor, Jürgen K. Naggert
Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.
Published in final edited form as: Hum Mutat. 2015 Jul; 36(7): 660–668. Published online 2015 May 18. doi: 10.1002/humu.22796
PMCID:
PMC4475486
AbstractArticlePDF–532K
15.
A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient
May Sanyoura, Cédric Woudstra, George Halaby, Patrick Baz, Valérie Senée, Pierre-Jean Guillausseau, Pierre Zalloua, Cécile Julier
Eur J Hum Genet. 2014 Jan; 22(1): 140–143. Published online 2013 May 8. doi: 10.1038/ejhg.2013.87
PMCID:
PMC3865412
AbstractArticlePDF–544K
16.
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome
Satoshi Katagiri, Kazutoshi Yoshitake, Masakazu Akahori, Takaaki Hayashi, Masaaki Furuno, Jo Nishino, Kazuho Ikeo, Hiroshi Tsuneoka, Takeshi Iwata
Mol Vis. 2013; 19: 2393–2406. Published online 2013 Nov 24.
PMCID:
PMC3850975
AbstractArticlePDF–2.7M
17.
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome
Jamal Mahamid, Avraham Lorber, Yoseph Horovitz, Stavit A Shalev, Gayle B Collin, Jürgen K Naggert, Jan D Marshall, Ronen Spiegel
Pediatr Cardiol. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Pediatr Cardiol. 2013 Feb; 34(2): 455–458. Published online 2012 Mar 24. doi: 10.1007/s00246-012-0296-6
PMCID:
PMC3779600
AbstractArticlePDF–295K
18.
Alström Syndrome is associated with short stature and reduced GH reserve
S. Romano, P. Maffei, V. Bettini, G. Milan, F. Favaretto, M. Gardiman, J.D. Marshall, N.A. Greggio, G.B. Pozzan, G.B. Collin, J.K. Naggert, R. Bronson, R. Vettor
Clin Endocrinol (Oxf) Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Clin Endocrinol (Oxf). 2013 Oct; 79(4): 529–536. Published online 2013 Mar 26. doi: 10.1111/cen.12180
PMCID:
PMC3718851
AbstractArticlePDF–3.4M
19.
Novel Alu Retrotransposon Insertion Leading to Alström Syndrome
Mustafa Taşkesen, Gayle B. Collin, Alexei V. Evsikov, Ayşegül Güzel, R. Köksal Özgül, Jan D. Marshall, Jürgen K. Naggert
Hum Genet. Author manuscript; available in PMC 2013 Mar 1.
Published in final edited form as: Hum Genet. 2012 Mar; 131(3): 407–413. Published online 2011 Aug 30. doi: 10.1007/s00439-011-1083-9
PMCID:
PMC3264847
AbstractArticlePDF–1.0M
20.
ALMS1-Deficient Fibroblasts Over-Express Extra-Cellular Matrix Components, Display Cell Cycle Delay and Are Resistant to Apoptosis
Elisabetta Zulato, Francesca Favaretto, Caterina Veronese, Stefano Campanaro, Jan D. Marshall, Sara Romano, Anna Cabrelle, Gayle B. Collin, Barbara Zavan, Anna S. Belloni, Enrica Rampazzo, Jürgen K. Naggert, Giovanni Abatangelo, Nicola Sicolo, Pietro Maffei, Gabriella Milan, Roberto Vettor
PLoS One. 2011; 6(4): e19081. Published online 2011 Apr 26. doi: 10.1371/journal.pone.0019081
PMCID:
PMC3082548
AbstractArticlePDF–2.5M

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