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181por Gao, Yanan, Lyu, Qiong, Luo, Peng, Li, Mujiao, Zhou, Rui, Zhang, Jian, Lyu, Qingwen“…A final panel of nine genes (PLXNC1, KIAA0649, SPTBN4, SLC14A2, F13A1, COL5A1, SCN2A, PLEC, and ALMS1) was identified, and achieved an area under the curve (AUC) of 0.873 ± 0.004. …”
Publicado 2021
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182por Best, Sunayna, Yu, Jing, Lord, Jenny, Roche, Matthew, Watson, Christopher Mark, Bevers, Roel P J, Stuckey, Alex, Madhusudhan, Savita, Jewell, Rosalyn, Sisodiya, Sanjay M, Lin, Siying, Turner, Stephen, Robinson, Hannah, Leslie, Joseph S, Baple, Emma, Toomes, Carmel, Inglehearn, Chris, Wheway, Gabrielle, Johnson, Colin A“…METHODS: We developed a reverse phenotyping strategy to identify 100K participants with pathogenic variants in nine prioritised disease genes (BBS1, BBS10, ALMS1, OFD1, DYNC2H1, WDR34, NPHP1, TMEM67, CEP290), representative of the full phenotypic spectrum of multisystemic primary ciliopathies. …”
Publicado 2022
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183Publicado 1997Tabla de Contenidos: “…Cinco canciones para niños / de Silvestre Revueltas -- Siete canciones populares / de Manuel de Falla -- Cinco canciones: La siempre viva ; Ay, que el alme ; Se equivocó la paloma ; Severa Villafañe ; El sampedrino / de Carlos Guastavino -- Dos canciones: Canción de la barca triste ; Nana para un niño que se llama Rafael / de Salvador Moreno -- Cuando dos / de Jesús Echevarria.…”
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184por Srivastava, Priyanka, Bamba, Chitra, Chopra, Seema, Rohilla, Minakshi, Chaudhry, Chakshu, Kaur, Anupriya, Panigrahi, Inusha, Mandal, Kausik“…Mutations in few important genes (SRP54, ERBB4, NEB, ALMS, ALAD, MTHFR, F5, and APOE), which are involved in vital pathways, early embryonic development, and fetal demise, were identified in the POCs. …”
Publicado 2023
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185por Böger, Carsten A., Gorski, Mathias, Li, Man, Hoffmann, Michael M., Huang, Chunmei, Yang, Qiong, Teumer, Alexander, Krane, Vera, O'Seaghdha, Conall M., Kutalik, Zoltán, Wichmann, H.-Erich, Haak, Thomas, Boes, Eva, Coassin, Stefan, Coresh, Josef, Kollerits, Barbara, Haun, Margot, Paulweber, Bernhard, Köttgen, Anna, Li, Guo, Shlipak, Michael G., Powe, Neil, Hwang, Shih-Jen, Dehghan, Abbas, Rivadeneira, Fernando, Uitterlinden, André, Hofman, Albert, Beckmann, Jacques S., Krämer, Bernhard K., Witteman, Jacqueline, Bochud, Murielle, Siscovick, David, Rettig, Rainer, Kronenberg, Florian, Wanner, Christoph, Thadhani, Ravi I., Heid, Iris M., Fox, Caroline S., Kao, W. H.“…SNPs at 11 of the 16 loci (UMOD, PRKAG2, ANXA9, DAB2, SHROOM3, DACH1, STC1, SLC34A1, ALMS1/NAT8, UBE2Q2, and GCKR) were associated with incident CKD; p-values ranged from p = 4.1e-9 in UMOD to p = 0.03 in GCKR. …”
Publicado 2011
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186por Govil, Manika, Mukhopadhyay, Nandita, Weeks, Daniel E., Feingold, Eleanor, Shaffer, John R., Levy, Steven M., Vieira, Alexandre R., Slayton, Rebecca L., McNeil, Daniel W., Weyant, Robert J., Crout, Richard J., Marazita, Mary L.“…Genes with a potential role in dental caries in the eight chromosomal regions include CACNA1E, LAMC2, ALMS1, STAMBP, GXYLT2, SLC12A2, MEGF10, TMEM181, ARID1B, and, as well as genes in several immune gene families. …”
Publicado 2018
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187por Tang, Vincent Duong, Egense, Alena, Yiu, Glenn, Meyers, Elijah, Moshiri, Ala, Shankar, Suma P.“…Genetic testing included a ciliopathy panel that was negative followed by WGS that identified biallelic variants in ALMS: a novel frame-shift pathogenic variant c.6525dupT (p.Gln2176Serfs*17) and a rare nonsense pathogenic variant c.2035C > T (p.Arg679Ter) consistent with Alstrom syndrome. …”
Publicado 2022
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188“…In addition, a ceRNA network including 8 lncRNAs (e.g., LINC00324, SNHG12, and ALMS1-IT1), 7 miRNAs (e.g., hsa-miR-217, hsa-miR-184, and hsa-miR-140-5p), and 52 mRNAs (e.g., IGFBP5, TMED5, and MAGT1) was constructed. …”
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189por Reynolds, Kaylia M., Horimoto, Andrea R. V. R., Lin, Bridget M., Zhang, Ying, Kurniansyah, Nuzulul, Yu, Bing, Boerwinkle, Eric, Qi, Qibin, Kaplan, Robert, Daviglus, Martha, Hou, Lifang, Zhou, Laura Y., Cai, Jianwen, Shaikh, Saame Raza, Sofer, Tamar, Browning, Sharon R., Franceschini, Nora“…This region, mapped to ALMS1, is associated with chronic kidney disease, a disease that disproportionately burdens individuals of African descent. …”
Publicado 2023
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190“…CONCLUSION: Fifteen kinds of lncRNAs with different expressions (AP003555.1, AC099850.3, AL031985.3, LINC01857, STPG3-AS1, AL137782.1, AC124067.4, AC012313.5, AC083900.1, AC010973.2, ALMS1-IT1, AC013652.1, AC133540.1, AP006621.2, AC018653.3) were closely associated with poor prognosis of colorectal cancer. …”
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191por Lunetta, Kathryn L., Day, Felix R., Sulem, Patrick, Ruth, Katherine S., Tung, Joyce Y., Hinds, David A., Esko, Tõnu, Elks, Cathy E., Altmaier, Elisabeth, He, Chunyan, Huffman, Jennifer E., Mihailov, Evelin, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Stolk, Lisette, Teumer, Alexander, Thompson, Deborah J., Traglia, Michela, Wang, Carol A., Yerges-Armstrong, Laura M., Antoniou, Antonis C., Barbieri, Caterina, Coviello, Andrea D., Cucca, Francesco, Demerath, Ellen W., Dunning, Alison M., Gandin, Ilaria, Grove, Megan L., Gudbjartsson, Daniel F., Hocking, Lynne J., Hofman, Albert, Huang, Jinyan, Jackson, Rebecca D., Karasik, David, Kriebel, Jennifer, Lange, Ethan M., Lange, Leslie A., Langenberg, Claudia, Li, Xin, Luan, Jian'an, Mägi, Reedik, Morrison, Alanna C., Padmanabhan, Sandosh, Pirie, Ailith, Polasek, Ozren, Porteous, David, Reiner, Alex P., Rivadeneira, Fernando, Rudan, Igor, Sala, Cinzia F., Schlessinger, David, Scott, Robert A., Stöckl, Doris, Visser, Jenny A., Völker, Uwe, Vozzi, Diego, Wilson, James G., Zygmunt, Marek, Boerwinkle, Eric, Buring, Julie E., Crisponi, Laura, Easton, Douglas F., Hayward, Caroline, Hu, Frank B., Liu, Simin, Metspalu, Andres, Pennell, Craig E., Ridker, Paul M., Strauch, Konstantin, Streeten, Elizabeth A., Toniolo, Daniela, Uitterlinden, André G., Ulivi, Sheila, Völzke, Henry, Wareham, Nicholas J., Wellons, Melissa, Franceschini, Nora, Chasman, Daniel I., Thorsteinsdottir, Unnur, Murray, Anna, Stefansson, Kari, Murabito, Joanne M., Ong, Ken K., Perry, John R. B.“…Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08–4.6%; effect sizes 0.08–1.25 years per allele; P<5 × 10(−8)). …”
Publicado 2015
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192por Otsuka, Rei, Matsui, Yasumoto, Tange, Chikako, Nishita, Yukiko, Tomida, Makiko, Ando, Fujiko, Shimokata, Hiroshi, Arai, Hidenori“…METHODS: Subjects comprised 1026 men and 952 women between 40 and 79 years old at baseline (1997–2000) who participated in the National Institute for Longevity Sciences - Longitudinal Study of Aging, Japan. ALM (kg) and 5 adjusted indices of ALM (ALM/leg length, ALM/height, ALM/height(2), ALM/weight, and ALM/body mass index [BMI]) were assessed at baseline. …”
Publicado 2018
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193“…METHODS: We studied 63 patients with ALM and 63 randomly stage- and limb-matched patients with SSM (non-ALM). …”
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194por Yamada, Yosuke, Murakami, Haruka, Kawakami, Ryoko, Gando, Yuko, Nanri, Hinako, Nakagata, Takashi, Watanabe, Daiki, Yoshida, Tsukasa, Hatamoto, Yoichi, Yoshimura, Eiichi, Sanada, Kiyoshi, Miyatake, Nobuyuki, Miyachi, Motohiko“…Previous cross-sectional studies have indicated that low relative appendicular lean mass (ALM) against body weight (divided by body weight, ALM/Wt, or divided by body mass index, ALM/BMI) was negatively associated with metabolic syndrome (MetS). …”
Publicado 2022
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195“…Appendicular lean mass index (ALMI, kg/m(2)), fat mass index (FMI, kg/m(2)), FMI-adjusted ALMI (ALM(fmi)), ratio of ALM to weight index (ALM(wt)), ratio of ALM to body mass index (ALM(bmi)) and ratio of ALM to truncal fat index (ALM(trunkfat)) were measured by dual energy X-ray absorptiometry in 17,870 participants from 2008 to 2011. …”
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196por van den Helder, Jantine, Verreijen, Amely M., van Dronkelaar, Carliene, Memelink, Robert G., Engberink, Mariëlle F., Engelbert, Raoul H. H., Weijs, Peter J. M., Tieland, Michael“…The lowest quintile of ALM by DXA was used as proxy for low ALM (< 22.8 kg for men, < 16.1 kg for women). …”
Publicado 2022
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197por Henderson, Jeremy C., Fage, Christopher D., Cannon, Joe R., Brodbelt, Jennifer S., Keatinge-Clay, Adrian T., Trent, M. Stephen“…Here, we present the mechanistic determination of initial steps in the AlmEFG pathway. We verify that AlmF is an aminoacyl carrier protein and identify AlmE as the enzyme required to activate AlmF as a functional carrier protein. …”
Publicado 2014
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198“…The main objective of this study was to examine the reduction of the bioavailable fractions of As and Pb in paddy soil with artificial lightweight material (ALM) manufactured from recycled materials. A total of four treatments, including a control (no amendment), ALM10 (10% of ALM in soil), ALM10+L (10% ALM combined with 0.5% lime), and ALM10+FeO (10% ALM combined with 0.5% FeO), were applied to paddy fields, and rice (Oryza sativa L.) was cultivated after 32 weeks. …”
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199“…Risk factors of recurrence and distant metastasis of acral lentiginous melanoma (ALM) are of great interest for the high percentage of ALM in cutaneous melanoma in Asian populations. …”
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200por Gao, Bei-Yao, Cao, Yi-Xing, Fu, Peng-Fei, Xing, Ying, Liang, Dan, Jiang, Shan, Xie, Yu-Xiao, Li, Min“…However, the significance of cALM activation and inhibition in the treatment of stroke remains unclear. …”
Publicado 2021
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