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Academic Journal

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia

Subjects: Adolescent; Adult; Alleles

  • Source: Virts , E L , Jankowska , A , Mackay , C , Glaas , M F , Wiek , C , Kelich , S L , Lottmann , N , Kennedy , F M , Marchal , C , Lehnert , E , Scharf , R E , Dufour , C , Lanciotti , M , Farruggia , P

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Academic Journal

Integrating transcriptomic and proteomic data for accurate assembly and annotation of genomes

Subjects: /dk/atira/pure/subjectarea/asjc/1300/1311; name=Genetics; /dk/atira/pure/subjectarea/asjc/2700/2716

  • Source: Prasad , T S K , Mohanty , A K , Kumar , M , Sreenivasamurthy , S K , Dey , G , Nirujogi , R S , Pinto , S M , Madugundu , A K , Patil , A H , Advani , J , Manda , S S , Gupta , M K , Dwivedi , S B ,

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Academic Journal

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa

Subjects: Journal article; Craniofacial genetics; Expressivity

  • Source: Gowans , L J J , Busch , T D , Mossey , P A , Eshete , M A , Adeyemo , W L , Aregbesola , B , Donkor , P , Arthur , F K N , Agbenorku , P , Olutayo , J , Twumasi , P , Braimah , R , Oti , A A ,

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Academic Journal

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa

Subjects: IRF6; orofacial clefts; popliteal pterygium syndrome

  • Source: Naicker , T , Alade , A , Adeleke , C , Mossey , P A , Awotoye , W A , Busch , T , Li , M , Olotu , J , Aldous , C & Butali , A 2023 , ' Novel IRF6 variant in orofacial cleft patients from Durban,

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Academic Journal

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

Subjects: IRF6; popliteal; pterygium syndrome

  • Source: Butali , A , Mossey , P A , Adeyemo , W L , Eshete , M A , Gaines , L A , Even , D , Braimah , R O , Aregbesola , B S , Rigdon , J V , Emeka , C I , James , O , Ogunlewe , M O , Ladeinde , A L , Abate

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Academic Journal

MIR205HG/LEADR Long Noncoding RNA Binds to Primed Proximal Regulatory Regions in Prostate Basal Cells Through a Triplex- and Alu-Mediated Mechanism

Subjects: Alu; ChIRP; long noncoding RNA

  • Source: Bezzecchi , E , Pagani , G , Forte , B , Percio , S , Zaffaroni , N , Dolfini , D & Gandellini , P 2022 , ' MIR205HG/LEADR Long Noncoding RNA Binds to Primed Proximal Regulatory Regions in Prostate

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Academic Journal

Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate

Subjects: GRHL3; South Africa; cleft lip and cleft palate

  • Source: Naicker , T , Adeleke , C C , Alade , A , Mossey , P A , Awotoye , W A , Busch , T D , Li , M , Olotu , J , Gowans , L J J , Aldous , C & Butali , A 2022 , ' Novel GRHL3 Variants in a South African

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Academic Journal

Inhibition of nonsense-mediated decay rescues p53β/γ isoform expression and activates the p53 pathway in MDM2-overexpressing and select p53-mutant cancers

Subjects: p53; mRNA decay; alternative splicing

  • Source: Gudikote , J P , Cascone , T , Poteete , A , Sitthideatphaiboon , P , Wu , Q , Morikawa , N , Zhang , F , Peng , S , Tong , P , Li , L , Shen , L , Nilsson , M , Jones , P , Sulman , E P , Wang , J ,

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Academic Journal

Differential nucleosome occupancy modulates alternative splicing in Arabidopsis thaliana

Subjects: Arabidopsis thaliana; alternative splicing; co-transcriptional splicing

  • Source: Jabre , I , Chaudhary , S , Guo , W , Kalyna , M , Reddy , A S N , Chen , W , Zhang , R , Wilson , C & Syed , N H 2021 , ' Differential nucleosome occupancy modulates alternative splicing in

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Academic Journal

Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

Subjects: Keratins; Leukokeratosis; Mutation

  • Source: Kürklü , E , Öztürk , Ş , Cassidy , A J , Ak , G , Koray , M , Çefle , K , Palandüz , Ş , Güllüoğlu , M G , Tanyeri , H & McLean , W H I 2018 , ' Clinical features and molecular genetic

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