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topic_facet:"Research Support, Non-U.S. Gov't"
journalStr:"Human molecular genetics"
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PubPharm (4.133)
1
The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ
enthalten in:
Human molecular genetics
| 2023
von
Ester, L.
|
Cabrita, I.
|
Ventzke, M.
| +8
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2
Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis
enthalten in:
Human molecular genetics
| 2023
von
Pino, M.
|
Rich, K.
|
Hall, N.
| +4
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3
Extension of the DNAJB2a isoform in a dominant neuromyopathy family
enthalten in:
Human molecular genetics
| 2023
von
Sarparanta, J.
|
Jonson, P.
|
Reimann, J.
| +8
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4
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells
enthalten in:
Human molecular genetics
| 2023
von
Schmitt, H.
|
Hake, K.
|
Perkumas, K.
| +9
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5
Macrocephaly and developmental delay caused by missense variants in RAB5C
enthalten in:
Human molecular genetics
| 2023
von
Koop, K.
|
Yuan, W.
|
Tessadori, F.
| +146
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6
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations
enthalten in:
Human molecular genetics
| 2023
von
Fassad, M.
|
Rumman, N.
|
Junger, K.
| +8
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7
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
enthalten in:
Human molecular genetics
| 2023
von
Kaltak, M.
|
Corradi, Z.
|
Collin, R.
| +2
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8
Human herpesvirus 8 ORF57 protein is able to reduce TDP-43 pathology : network analysis identifies interacting pathways
enthalten in:
Human molecular genetics
| 2023
von
Webber, C.
|
Murphy, C.
|
Rondón-Ortiz, A.
| +7
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9
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet-Biedl syndrome-like ciliary defects
enthalten in:
Human molecular genetics
| 2023
von
Tasaki, K.
|
Zhou, Z.
|
Ishida, Y.
| +2
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10
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity
enthalten in:
Human molecular genetics
| 2023
von
Maliński, B.
|
Vertemara, J.
|
Faustini, E.
| +8
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Thema: Research Support, Non-U.S. Gov't
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Zeitschrift: Human molecular genetics
Medienart
4.133
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Zeitschriftentitel
Human molecular genetics
Thema
4.133
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Research Support, Non-U.S. Gov't
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Research Support, N.I.H., Extramural
493
Nerve Tissue Proteins
455
Research Support, U.S. Gov't, P.H.S.
429
DNA-Binding Proteins
418
Membrane Proteins
409
Nuclear Proteins
387
Transcription Factors
338
EC 2.7.11.1
300
RNA, Messenger
276
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254
Carrier Proteins
204
Comparative Study
203
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194
Protein Serine-Threonine Kinases
188
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