Results 201 to 210 of about 394,012 (302)

Editorial: Genome Invading RNA Networks [PDF]

open access: yes, 2018
Witzany, L. P. Villarreal & Guenther
core  

Transcriptomics Unveil Dsx1 as a Critical Regulator in Sexual Dimorphism of Crustaceans

open access: yesIntegrative Zoology, EarlyView.
Sexually dimorphic traits are involved in reproductive competition and are shaped by sex‐biased gene expression. This study identifies Dsx1 as a key male‐biased gene in Morinoia aosen and demonstrates through RNA interference that its disruption feminizes male‐specific T3 leg structures.
Yan Tong   +8 more
wiley   +1 more source

Testis‐Enriched F‐Box Protein FBXO39 Is Important for Spermiogenesis and Male Fertility in Mice

open access: yesAndrology, EarlyView.
ABSTRACT Background The SCF (Skp–Cullin–F‐box) complex is a major class of E3 ubiquitin ligases. F‐box proteins constitute the SCF complex and play a critical role in recognizing substrates for ubiquitination. In mice, several F‐box proteins, including FBXO36 and FBXO39, are predominantly expressed in testes.
Yuki Kaneda   +2 more
wiley   +1 more source

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman   +11 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic   +10 more
wiley   +1 more source

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants

open access: yesBritish Journal of Haematology, EarlyView.
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George   +13 more
wiley   +1 more source

Renal dysfunction in symptomatic Waldenström macroglobulinaemia: A nationwide Italian multicentre study

open access: yesBritish Journal of Haematology, EarlyView.
Renal dysfunction represents a possible underrecognized complication of symptomatic WM; this condition correlates with adverse global and disease‐specific clinical outcomes. Summary The prognostic significance of impaired renal function in Waldenström macroglobulinaemia (WM) remains poorly defined.
Nicolò Danesin   +27 more
wiley   +1 more source

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