| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Moeed Ahmed, Abdul R Ahmed, Rana A Farma. Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome. Cureus. vol 16. issue 5. 2024-06-17. PMID:38883129. |
she had genetic testing done that revealed that she was homozygous for the alms1 gene and was diagnosed with alstrom syndrome. |
2024-06-17 |
2024-06-19 |
Not clear |
| Maria Elena Turba, Paolo Ferrari, Raffaella Milanesi, Fabio Gentilini, Maria Longer. HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats. Animal genetics. 2023-06-22. PMID:37345275. |
a variant of the alstrom syndrome protein 1 gene (alms1) was recently reported to be associated with hcm in the sphynx cat breed (a3: g.92439157g>c). |
2023-06-22 |
2023-08-14 |
cat |
| Noriyoshi Akiyama, Ryohei Suzuki, Takahiro Saito, Yunosuke Yuchi, Hisashi Ukawa, Yuki Matsumot. Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan. PloS one. vol 18. issue 4. 2023-04-18. PMID:37071642. |
previous studies have identified five hcm-associated variants in three genes (myosin binding protein c3: mybpc3 p.a31p, p.a74t, p.r820w; myosin heavy chain 7: myh7 p.e1883k; alstrom syndrome protein 1: alms1 p.g3376r). |
2023-04-18 |
2023-08-14 |
cat |
| Shabnam Jalilolghadr, Fatemeh Saffari, Mehdi Alizadeh, AliReza Taremiha, Marjan Ghodsi, Mersedeh Ghods. Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems. Clinical case reports. vol 11. issue 2. 2023-02-13. PMID:36777792. |
alstrom syndrome is a rare genetic disorder with an autosomal recessive mutation in the alms1 gene. |
2023-02-13 |
2023-08-14 |
Not clear |
| Ming Zhong, Ling-Ning Huang, Song-Jing Zhang, Sun-Jie Ya. Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing. Nigerian journal of clinical practice. vol 25. issue 12. 2022-12-20. PMID:36537469. |
alstrom syndrome (as) is one type of monogenic diabetic syndromes caused by mutation in the alms1. |
2022-12-20 |
2023-08-14 |
Not clear |
| Dipak Maskey, Ankita Jayakumar, Sumit R Monu, Pablo A Orti. Expression of ALMS1 in podocytes: possible role in filtration function. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 36 Suppl 1. 2022-05-13. PMID:35553156. |
previously, we identified alstrom syndrome 1 (alms1) as an interacting partner of nkcc2 in the thick ascending limb of the loop of henle (tal). |
2022-05-13 |
2023-08-13 |
mouse |
| Rongrong Xu, Hua Zhou, Feng Fang, Liru Qiu, Xinglou Li. A novel variant site of Alstrom syndrome in a Chinese child: a case report. Translational pediatrics. vol 11. issue 4. 2022-05-13. PMID:35558973. |
alstrom syndrome (alms) is an ultra-rare multisystem genetic disorder caused by autosomal recessive inheritance of the alms1 gene. |
2022-05-13 |
2023-08-13 |
Not clear |
| Yan Zhao, Lee-Kai Wang, Ascia Eskin, Xuedong Kang, Viviana M Fajardo, Zubin Mehta, Stacy Pineles, Ryan J Schmidt, Aaron Nagiel, Gary Satou, Meena Garg, Myke Federman, Leigh C Reardon, Steven L Lee, Reshma Biniwale, Wayne W Grody, Nancy Halnon, Negar Khanlou, Fabiola Quintero-Rivera, Juan C Alejos, Atsushi Nakano, Gregory A Fishbein, Glen S Van Arsdell, Stanley F Nelson, Marlin Toum. Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. Journal of molecular medicine (Berlin, Germany). vol 99. issue 11. 2021-11-22. PMID:34387706. |
loss of function mutations of alms1 have been implicated in alstrom syndrome (as) [omim 203800], a rare recessive ciliopathy that has been associated with cardiomyopathy. |
2021-11-22 |
2023-08-13 |
Not clear |
| Kathryn M Meurs, Brian G Williams, Dylan DeProspero, Steven G Friedenberg, David E Malarkey, J Ashley Ezzell, Bruce W Keene, Darcy B Adin, Teresa C DeFrancesco, Sandra To. A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet journal of rare diseases. vol 16. issue 1. 2021-06-18. PMID:33639992. |
mutations in the alms1 gene are associated with the development of alstrom syndrome, a multisystem familial disease that can include cardiomyopathy (dilated, restrictive). |
2021-06-18 |
2023-08-13 |
mouse |
| Natarajan N Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathava. Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis. Human genome variation. vol 8. issue 1. 2021-04-17. PMID:33782391. |
although alms1 gene mutations are associated with alstrom syndrome (as), the current patients did not exhibit typical syndromic features of as. |
2021-04-17 |
2023-08-13 |
Not clear |
| Maria F Shurygina, Maria A Parker, Catie L Schlechter, Rui Chen, Yumei Li, Richard G Weleber, Paul Yang, Mark E Pennes. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC ophthalmology. vol 19. issue 1. 2020-03-23. PMID:31810438. |
a case report of two siblings with alstrom syndrome without hearing loss associated with two new alms1 variants. |
2020-03-23 |
2023-08-13 |
Not clear |
| Jiang Su, Changqing Gao, Rong Wang, Cangsong Xiao, Ming Yan. Genes associated with inflammation and the cell cycle may serve as biomarkers for the diagnosis and prognosis of acute myocardial infarction in a Chinese population. Molecular medicine reports. vol 18. issue 2. 2018-10-19. PMID:29845217. |
the downregulated degs were associated with the cell cycle, including alstrom syndrome protein 1 (alms1). |
2018-10-19 |
2023-08-13 |
Not clear |
| Ameya S Joshi, Ashok R Mohite, Premlata K Varthakavi, Pravin M Rath. Alström Syndrome with Portal Hypertension. The Journal of the Association of Physicians of India. vol 64. issue 10. 2018-10-04. PMID:27766814. |
alstrom syndrome is an autosomal recessive multisystem disorder caused by mutation in alms1 (2p13). |
2018-10-04 |
2023-08-13 |
Not clear |
| Katarina Braune, Ines Volkmer, Martin S Staeg. Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. PloS one. vol 12. issue 1. 2017-08-09. PMID:28135309. |
alms1 mutations cause alstrom syndrome, a rare genetic disorder. |
2017-08-09 |
2023-08-13 |
human |
| Katarina Braune, Ines Volkmer, Martin S Staeg. Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. PloS one. vol 12. issue 1. 2017-08-09. PMID:28135309. |
characterization of alstrom syndrome 1 (alms1) transcript variants in hodgkin lymphoma cells. |
2017-08-09 |
2023-08-13 |
human |
| Katarina Braune, Ines Volkmer, Martin S Staeg. Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. PloS one. vol 12. issue 1. 2017-08-09. PMID:28135309. |
the alstrom syndrome gene (alms1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. |
2017-08-09 |
2023-08-13 |
human |
| Jillian Casey, Paul McGettigan, Donal Brosnahan, Emma Curtis, Eileen Treacy, Sean Ennis, Sally Ann Lync. Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. European journal of medical genetics. vol 57. issue 2-3. 2015-01-23. PMID:24503146. |
atypical alstrom syndrome with novel alms1 mutations precluded by current diagnostic criteria. |
2015-01-23 |
2023-08-12 |
Not clear |
| J A L Minton, K R Owen, C J Ricketts, N Crabtree, G Shaikh, S Ehtisham, J R Porter, C Carey, D Hodge, R Paisey, M Walker, T G Barret. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. The Journal of clinical endocrinology and metabolism. vol 91. issue 8. 2006-09-18. PMID:16720663. |
syndromic obesity and diabetes: changes in body composition with age and mutation analysis of alms1 in 12 united kingdom kindreds with alstrom syndrome. |
2006-09-18 |
2023-08-12 |
Not clear |