Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Hek-293t Cell
SUBMITTER: James Wright
LAB HEAD: Jyoti Choudhary
PROVIDER: PXD017642 | Pride | 2020-05-08
REPOSITORIES: Pride
Action | DRS | |||
---|---|---|---|---|
Fusion_MP009_293A.msf | Msf | |||
Fusion_MP009_293A.raw | Raw | |||
Fusion_MP009_293WT.msf | Msf | |||
Fusion_MP009_293WT.raw | Raw | |||
Fusion_MP012_293A.msf | Msf |
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Lee Yu-Ri YR Khan Kamal K Armfield-Uhas Kim K Srikanth Sujata S Thompson Nicola A NA Pardo Mercedes M Yu Lu L Norris Joy W JW Peng Yunhui Y Gripp Karen W KW Aleck Kirk A KA Li Chumei C Spence Ed E Choi Tae-Ik TI Kwon Soo Jeong SJ Park Hee-Moon HM Yu Daseuli D Heo Won Do WD Mooney Marie R MR Baig Shahid M SM Wentzensen Ingrid M IM Telegrafi Aida A McWalter Kirsty K Moreland Trevor T Roadhouse Chelsea C Ramsey Keri K Lyons Michael J MJ Skinner Cindy C Alexov Emil E Katsanis Nicholas N Stevenson Roger E RE Choudhary Jyoti S JS Adams David J DJ Kim Cheol-Hee CH Davis Erica E EE Schwartz Charles E CE
Nature communications 20200723 1
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation assays indicate that the patient-derived variants are hypomo ...[more]