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Select item 107676061.

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

Article PDF–1.7M

Select item 107047522.

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

Article PDF–6.9M

Select item 95117753.

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

Article PDF–1.4M

Select item 93569754.

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

Article PDF–354K

Select item 79847225.

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

Article PDF–567K

Select item 79204466.

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

Article PDF–1.7M

Select item 74633027.

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

Article PDF–626K

Select item 74536078.

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

Article PDF–660K

Select item 68989309.

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

Article PDF–8.5M

Select item 546076710.

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

Article PDF–485K

Select item 527975811.

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

Article PDF–3.4M

Select item 447548612.

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

Article PDF–532K

Select item 386541213.

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

Article PDF–544K

Select item 385097514.

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

Article PDF–2.7M

Select item 377960015.

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

Article PDF–295K

Select item 371885116.

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

Article PDF–3.4M

Select item 326484717.

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

Article PDF–1.0M

Select item 308254818.

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

Article PDF–2.5M

Select item 1082079819.

Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters

Franziska Woerz, Felix Hoffmann, Shibu Antony, Sylvia Bolz, Mohamed Ali Jarboui, Katrin Junger, Franziska Klose, Isabel F. Stehle, Karsten Boldt, Marius Ueffing, Tina Beyer

Mol Cell Proteomics. 2024 Jan; 23(1): 100701. Published online 2023 Dec 18. doi: 10.1016/j.mcpro.2023.100701

PMCID:: PMC10820798

Article PDF–4.3M

Select item 632708220.

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits

Tom Hearn

J Mol Med (Berl) 2019; 97(1): 1–17. Published online 2018 Nov 12. doi: 10.1007/s00109-018-1714-x

PMCID:: PMC6327082

Article PDF–4.1M

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