Results 51 to 60 of about 3,214 (198)

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria [PDF]

European Journal of Medical Genetics, 2014
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative ...
Jillian, Casey, Paul, McGettigan, Donal, Brosnahan, Emma, Curtis, Eileen, Treacy, Sean, Ennis, Sally Ann, Lynch   +6 more
openaire   +6 more sources

Rare coding variants and X-linked loci associated with age at menarche [PDF]

, 2015
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance.
Altmaier, E, Antoniou, AC, Arriola, L, Balkau, B, Barbieri, C, Barricarte, A, Barroso, I, Boeing, H, Boerwinkle, E, Buring, JE, Campbell, A, Chasman, DI, Coviello, AD, Crisponi, L, Cucca, F, Day, FR, Deary, IJ, Deloukas, P, Demerath, EW, Dunning, AM, Easton, DF, Elks, CE, Esko, T, Forouhi, NG, Franceschini, N, Franks, PW, Gandin, I, Gonzalez, C, Grioni, S, Grove, ML, Gudbjartsson, DF, Hayward, C, He, C, Hinds, DA, Hocking, LJ, Hofman, A, Hu, FB, Huang, J, Huffman, JE, Jackson, RD, Kaaks, R, Karasik, D, Kerrison, ND, Key, TJ, Kriebel, J, Lange, EM, Lange, LA, Langenberg, C, Li, X, Liu, S, Luan, J, Lunetta, KL, Maegi, R, McCarthy, MI, McIntosh, AM, Metspalu, A, Mihailov, E, Morrison, AC, Murabito, JM, Murray, A, Navarro, C, Nilsson, PM, Ong, KK, Overvad, K, Padmanabhan, S, Palli, D, Panico, S, Pennell, CE, Perry, JRB, Pirie, A, Polasek, O, Porcu, E, Porteous, D, Ramon Quiros, J, Reiner, AP, Riboli, E, Ridker, PM, Rivadeneira, F, Robino, A, Rolandsson, O, Rose, LM, Rudan, I, Ruth, KS, Sacerdote, C, Sala, CF, Sanchez, M-J, Schick, UM, Schlessinger, D, Scott, RA, Sharp, SJ, Sims, M, Slimani, N, Smith, BH, Stefansson, K, Stoeckl, D, Stolk, L, Strauch, K, Streeten, EA, Sulem, P, Teumer, A, Thompson, DJ, Thorsteinsdottir, U, Tjonneland, A, Toniolo, D, Traglia, M, Tumino, R, Tung, JY, Uitterlinden, AG, Ulivi, S, van der A, DL, van der Schouw, YT, Visser, JA, Voelker, U, Voelzke, H, Vozzi, D, Wang, CA, Wareham, NJ, Wellons, M, Wilson, JG, Yerges-Armstrong, LM, Zygmunt, M   +120 more
core   +18 more sources

High Prevalence Mutations in ALMS1 in Spanish Alström Patients [PDF]

, 2020
Abstract Background:Alström syndrome (ALMS) is a rare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes.
Brais Bea Mascato, Carlos López Solarat, Irene Perea Romeo, Teresa Jaijo, Fiona Blanco Kelly, Carmen Ayuso, Diana Valverde   +6 more
openaire   +1 more source

inPHAP: Interactive visualization of genotype and phased haplotype data [PDF]

, 2014
Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding the phase of ...
Jäger, Günter, Nieselt, Kay, Peltzer, Alexander   +2 more
core   +3 more sources

Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality [PDF]

, 2015
Genome-wide association studies with metabolic traits (mGWAS) uncovered many genetic variants that influence human metabolism. These genetically influenced metabotypes (GIMs) contribute to our metabolic individuality, our capacity to respond to ...
Altmaier, E., Arnold, M., Bergmann, S., Budde, K., Friedrich, N., Gieger, C., Homuth, G., Kacprowski, T., Kastenmüller, G., Nauck, M., Pietzner, M., Raffler, J., Rueedi, R., Römisch-Margl, W., Strauch, K., Suhre, K., Völker, U., Völzke, H., Waldenberger, M., Wallaschofski, H.   +19 more
core   +8 more sources

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Frontiers in Pediatrics, 2021
Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Omar I. Saadah, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli, Naglaa M. Kamal, Naglaa M. Kamal, Ahmed N. Sahly, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Ramu Elango, Ramu Elango   +18 more
doaj   +1 more source

HCM‐associated ALMS1 variant: Allele drop‐out and frequency in Italian Sphynx cats

Animal Genetics, 2023
AbstractHypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in domestic cats, and some inherited variants are available for genetic testing. 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).
M. E. TURBA, P. FERRARI, R. MILANESI, F. GENTILINI, M. LONGERI   +4 more
openaire   +4 more sources

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy [PDF]

Journal of Medical Genetics, 2005
As part of a clinical study of Alstrom syndrome (MIM 203800) we sequentially ascertained seven families. Four of the families, pedigrees A–D (table 1), were consanguineous. In total there were 16 living affected individuals, aged 3–25 years. All had cone rod dystrophy that presented in the first 3 months of life with photophobia and nystagmus. The cone
Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C G   +24 more
openaire   +3 more sources

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.

PLoS ONE, 2023
Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin ...
Noriyoshi Akiyama, Ryohei Suzuki, Takahiro Saito, Yunosuke Yuchi, Hisashi Ukawa, Yuki Matsumoto   +5 more
doaj   +1 more source

Animal models of NASH: getting both pathology and metabolic context right [PDF]

, 2015
Non-alcoholic fatty liver disease (NAFLD) is the most common cause of referral to liver clinics, and its progressive form, non-alcoholic steatohepatitis (NASH), can lead to cirrhosis and end-stage liver disease.
Larter, Claire Z., Yeh, Matthew M.
core   +1 more source