Results 121 to 130 of about 2,316,916 (188)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

Estrogen/Esr2b signaling‐dependent, female‐biased expression of a neuropeptide Y gene in the medaka brain

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract A recent study showed that female medaka lacking the estrogen receptor gene esr2b are unreceptive to male courtship and instead court other females. In this study, we investigated the brain transcriptome of esr2b‐deficient females to explore the underlying mechanisms of this behavioral phenotype, and identified npyb, one of the two ...
Yuki Homan, Yuji Nishiike, Mika Sato‐Tsukamoto, Daisuke Saito, Mikita Suyama, Yasuyuki Ohkawa, Fumiya Takahashi, Takashi Baba, Ken‐ichirou Morohashi, Kataaki Okubo   +9 more
wiley   +1 more source

Uncovering the isoform-resolution kinetic landscape of nonsense-mediated mRNA decay with EZbakR

Cellular RNA abundance reflects synthesis and decay rates, which can differ among transcripts of the same gene. Understanding nonsense-mediated mRNA decay and other RNA turnover pathways requires isoform-resolved kinetic measurements, but existing ...
Justin W. Mabin, Martin Machyna, Nazmul Haque, J. Robert Hogg, Alexandra Zhang, James Inglese, Isaac W. Vock, Poonam Thakran, Ganesha Rai, Isabelle Nathalie-Marie Leibler, Matthew D. Simon   +10 more
core   +1 more source

Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders. [PDF]

Front Mol Biosci
Anisimova P, Filat'eva A, Tarabykin V, Kondakova E.   +3 more
europepmc   +1 more source

Real-time imaging of transcriptional feedback in nonsense-mediated mRNA decay. [PDF]

Sci Adv
Islam MD, Das T, Singer RH, Sato H.
europepmc   +1 more source

Functional phosphoproteomic analysis of SMG1 in nonsense-mediated mRNA decay and DNA damage repair in cancer. [PDF]

Front Syst Biol
Pai AKA, Dcunha L, Gopalakrishnan AP, Ummar S, Rajeev AC, Raju R.   +5 more
europepmc   +1 more source

Nonsense-mediated mRNA decay inhibition reshapes the cancer immunopeptidome. [PDF]

Immunity
Vendramin R, Fu H, Fernandez Patel S, Zhao Y, Qian D, Ligammari L, Bartok O, Greenberg P, Levy R, Castro A, Thakkar K, Murai J, Lu WT, Sng CCT, Weller C, Beattie G, Bhamra A, Farriol-Duran R, Karagianni D, Augustine M, Dijkstra KK, Pinder CL, Simpson BS, Cheung GW, TRACERx Consortium, Galvez-Cancino F, Vlckova P, Surinova S, Rodriguez-Justo M, Shah M, McGranahan N, Carlton JG, Grönroos E, Reading JL, Samuels Y, Swanton C, Quezada SA, Litchfield K.   +37 more
europepmc   +1 more source

Signatures of nonsense-mediated mRNA decay but no evidence for transcriptional adaptation associated with protein-truncating variants in wild yeast diploids. [PDF]

Mol Biol Evol
Marszałek M, Babik W, Korona R, Tomala K.   +3 more
europepmc   +1 more source

Nonsense-mediated mRNA decay safeguards telomeres in pluripotent stem cells. [PDF]

Nat Cell Biol
Markiewicz-Potoczny M, Lee SY, Chatterjee S, Mabin JW, Zinsser A, Sandhu R, Tricola G, Hogg JR, Lazzerini Denchi E.   +8 more
europepmc   +1 more source