PMC Articles for MedGen (Select 400728) - PMC

Select item 43800721.

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Filippo Beleggia, Yun Li, Jieqing Fan, Nursel H. Elciog˘lu, Ebru Toker, Thomas Wieland, Irene H. Maumenee, Nurten A. Akarsu, Thomas Meitinger, Tim M. Strom, Richard Lang, Bernd Wollnik

Hum Mol Genet. 2015 Apr 15; 24(8): 2267–2273. Published online 2015 Jan 5. doi: 10.1093/hmg/ddu744

PMCID:: PMC4380072

Abstract Article PDF–632K

Select item 96523312.

Cryo-EM structures of human m⁶A writer complexes

Shichen Su, Shanshan Li, Ting Deng, Minsong Gao, Yue Yin, Baixing Wu, Chao Peng, Jianzhao Liu, Jinbiao Ma, Kaiming Zhang

Cell Res. 2022 Nov; 32(11): 982–994. Published online 2022 Sep 27. doi: 10.1038/s41422-022-00725-8

PMCID:: PMC9652331

Abstract Article PDF–6.8M

Select item 75409263.

Altered Expression of the m6A Methyltransferase METTL3 in Alzheimer’s Disease

He Huang, Judith Camats-Perna, Rodrigo Medeiros, Victor Anggono, Jocelyn Widagdo

eNeuro. 2020 Sep-Oct; 7(5): ENEURO.0125-20.2020. Prepublished online 2020 Aug 26. Published online 2020 Sep 8. doi: 10.1523/ENEURO.0125-20.2020

PMCID:: PMC7540926

Abstract Article PDF–1.5M

Select item 72313634.

A GaN HEMT Amplifier Design for Phased Array Radars and 5G New Radios

Dawid Kuchta, Daniel Gryglewski, Wojciech Wojtasiak

Micromachines (Basel) 2020 Apr; 11(4): 398. Published online 2020 Apr 10. doi: 10.3390/mi11040398

PMCID:: PMC7231363

Abstract Article PDF–5.8M

Select item 64145405.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani

Nat Commun. 2019; 10: 1180. Published online 2019 Mar 12. doi: 10.1038/s41467-019-08547-w

PMCID:: PMC6414540

Abstract Article PDF–2.3M

Select item 42518446.

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

Yi-Hsing Chen, Ming-Hui Sun, Shao-Hsuan Hsia, Chi-Chun Lai, Wei-Chi Wu

BMC Ophthalmol. 2014; 14: 143. Published online 2014 Nov 24. doi: 10.1186/1471-2415-14-143

PMCID:: PMC4251844

Abstract Article PDF–440K

Select item 39180017.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype

Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N Kennedy, SallyAnn Lynch, Andrew Green, Sean Ennis

Hum Mutat. Author manuscript; available in PMC 2014 Feb 7.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1417–1426. Published online 2011 Sep 29. doi: 10.1002/humu.21590