1. A nearby transiting rocky exoplanet that is suitable for atmospheric investigation.
Trifonov T, Caballero JA, Morales JC, Seifahrt A, Ribas I, Reiners A, Bean JL, Luque R, Parviainen H, Pallé E, Stock S, Zechmeister M, Amado PJ, Anglada-Escudé G, Azzaro M, Barclay T, Béjar VJS, Bluhm P, Casasayas-Barris N, Cifuentes C, Collins KA, Collins KI, Cortés-Contreras M, de Leon J, Dreizler S, Dressing CD, Esparza-Borges E, Espinoza N, Fausnaugh M, Fukui A, Hatzes AP, Hellier C, Henning T, Henze CE, Herrero E, Jeffers SV, Jenkins JM, Jensen ELN, Kaminski A, Kasper D, Kossakowski D, Kürster M, Lafarga M, Latham DW, Mann AW, Molaverdikhani K, Montes D, Montet BT, Murgas F, Narita N, Oshagh M, Passegger VM, Pollacco D, Quinn SN, Quirrenbach A, Ricker GR, Rodríguez López C, Sanz-Forcada J, Schwarz RP, Schweitzer A, Seager S, Shporer A, Stangret M, Stürmer J, Tan TG, Tenenbaum P, Twicken JD, Vanderspek R, Winn JN
Science (New York, N.Y.), 2021
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=0
2. Health assessment of wild speckled dwarf tortoises, CHERSOBIUS SIGNATUS.
Galosi L, Attili AR, Perrucci S, Origgi FC, Tambella AM, Rossi G, Cuteri V, Napoleoni M, Mandolini NA, Perugini G, Loehr VJT
BMC veterinary research, 2021
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=0
3. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Knapp KM, Jenkins DE, Sullivan R, Harms FL, von Elsner L, Ockeloen CW, de Munnik S, Bongers EMHF, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell LS
European journal of human genetics : EJHG, 2021
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=0
4. Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Yamada M, Ono M, Ishii T, Suzuki H, Uehara T, Takenouchi T, Kosaki K
American journal of medical genetics. Part A Am J Med Genet A Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. 10.1002/ajmg.a.62152 Some mammalian genes contain both major and minor introns, the splicing of which require distinctive major and minor spliceosomes, respectively; these genes are referred to as minor intron containing-genes. RNPC3 (RNA-binding domain-containing protein 3) is one of the proteins that are unique to the minor spliceosome U11/U12 di-snRNP. Only two families with biallelic pathogenic variants in the RNPC3 gene encoding the protein have been reported so far, and the affected members in both families had proportional short stature. While the affected members of the originally identified family did not have intellectual disability, the patients from the other family exhibited intellectual disability. Here, we report on a patient with severe primordial microcephalic dwarfism and intellectual disability who carried compound heterozygous variants in RNPC3 (NM_017619.3): c.261dup, p.Leu88Thrfs*11 and c.1228T>G, p.Phe410Val. The single nucleotide substitution c.1228T>G had a very high predictive score for pathogenicity: the p.Phe410 residue is highly conserved down to fish. Based on ACMG (American College of Medical Genetics and Genomics) guideline, this non-synonymous variant was scored as likely pathogenic. This documentation of yet another patient with biallelic RNPC3 variants exhibiting intellectual disability lends further support to the notion that intellectual disability is a key feature of the spectrum of RNPC3-related disorders. © 2021 Wiley Periodicals LLC. Yamada Mamiko M https://orcid.org/0000-0002-4039-8899 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Ono Masae M Department of Pediatrics, Tokyo Teishin Hospital, Tokyo, Japan. Ishii Tomohiro T Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. Suzuki Hisato H https://orcid.org/0000-0002-8122-7180 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Uehara Tomoko T https://orcid.org/0000-0002-1497-7686 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan. Takenouchi Toshiki T https://orcid.org/0000-0002-7311-4135 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. Kosaki Kenjiro K https://orcid.org/0000-0002-6798-8151 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. eng JP19K17342 Grant-in-Aid for Early-Career Scientists by JSPS KAKENHI JP20ek0109301 Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development Case Reports 2021 03 01 United States Am J Med Genet A 101235741 1552-4825 IM RNPC3 growth hormone deficiency minor spliceosomopathy short stature 2020 10 02 2021 02 15 2021 02 20 2021 3 2 6 25 2021 3 3 6 0 2021 3 3 6 0 aheadofprint 33650182 10.1002/ajmg.a.62152 REFERENCES, 2021</i></font><br><font color=#008000>http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=0<br></font></span><br>5. <a href=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=0 class=title>Transcriptome and metabolome profiling provide insights into molecular mechanism of pseudostem elongation in banana.</a><a href=http://ubio.org/tools/linkit.php?map%5B%5D=all&link_type=2&url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=0><img src=linkit.png border=0 title='LinkIT' alt='LinkIT'></a>
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<br><span class=j>Wu SY, Bao YT, Xu HB, Zhang L<br><font color=gray><i>Ying yong sheng tai xue bao = The journal of applied ecology, 2021</i></font><br><font color=#008000>http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=0<br></font></span><br><br><br><table cellspacing=0 cellpadding=0 align=center><tr valign=bottom><td align=center><img src=p.png border=0></td><td align=center><img src=o_red.png border=0></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=2><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=3><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=4><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=5><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=6><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=7><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=8><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=9><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=10><img src=o_yellow.png border=0></a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=2><img src=rtal.png border=0></a></td></tr><td align=center></td><td align=center>1</td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=2>2</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=3>3</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=4>4</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=5>5</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=6>6</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=7>7</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=8>8</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=9>9</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=10>10</a></td><td align=center><a href=http://ubio.org/portal/index.php?search=Dwarf&category=l&client=pubmed&startPage=2>»</a></td></tr></table></table></tr></table></td><script src="http://www.google-analytics.com/urchin.js" type="text/javascript">
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