Results 201 to 210 of about 161,850 (258)

Advantages and Challenges of G‑Quadruplexes in Regulating Alternative Splicing. [PDF]

JACS Au
Huang H, Zhou X.
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Decoding exonic intron retention from sequence: an exploratory study in the human genome. [PDF]

Front Bioinform
Faretra L, Napolitano F, Pancione M, Cerulo L.   +3 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Herpesvirus-encoded lncRNA targets host splicing by interacting with splicing factors. [PDF]

PLoS Pathog
Hong Y, Shekhar R, McMahon S, Keil N, Baddoo M, Watkins JM, Keshishian H, Stanclift C, Carr SA, Munschauer M, Burke JM, Flemington EK, Renne R.   +12 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Spliceosome induction is a druggable dependency of RAS-driven senescence and cancer. [PDF]

Nat Commun
Wagner V, Bousset L, Ascensão-Ferreira M, Sun B, Barragan Avila JE, Kaizeler A, Martins-Silva R, Rahbari M, Fernández-Vaquero M, Haston S, Tinti M, Pombo J, Khadayate S, Roth S, Schürch CM, Martínez-Barbera JP, Bahat A, Wee KB, Morton JP, Malek N, Innes AJ, Vernia S, Barbosa-Morais NL, Gallage S, Heikenwalder M, Gil J.   +25 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source