Results 171 to 180 of about 141,024 (299)

Relationship Between PTBP1 and Pancreatic Cancer Based on microRNA and Behavior During TYMS‐Mediated Carcinogenesis

Cancer Science, EarlyView.
Corresponding Author and colleagues identify a pancreas‐enriched microRNA, miR‐216b‐5p, that suppresses PTBP1 and its downstream effector TYMS. Their findings reveal a novel miR‐216b‐5p/PTBP1/TYMS regulatory axis driving pancreatic cancer progression and establish PTBP1 as a central molecular regulator of tumor biology beyond its metabolic role ...
Shigenori Suzuki, Hiroaki Hase, Yosuke Inomata, Jun Arima, Kentaro Jingushi, Atsushi Tomioka, Nao Kawaguchi, Hiroki Hamamoto, Ryo Tanaka, Yoshiro Imai, Mitsuhiro Asakuma, Tomohito Tanaka, Kazutake Tsujikawa, Kohei Taniguchi, Sang‐Woong Lee   +14 more
wiley   +1 more source

Case Report: First report of a novel homozygous nonsense mutation in the <i>CYBA</i> gene causing chronic granulomatous disease. [PDF]

Front Immunol
Wang WY, Ma PP, Wang SY, Wang YJ.
europepmc   +1 more source

Nonsense-Mutation [PDF]

, 2018
openaire   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

A Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report. [PDF]

J Clin Med
Cai B, Lv D, Luo X, Zhou L.
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Novel Nonsense Mutation in <i>SMARCD2</i> Gene Results in Dysplasia of All Myeloid Cell Lines. [PDF]

EJHaem
Brouwer MAE, Arensman A, Taal HR, Buddingh EP, Sun SM, Hulsmann A, Waals-Prinzen L.   +6 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Case Report: Neo-homozygous nonsense mutation in NLRP5 associated with early embryonic arrest in two sisters from a Chinese family. [PDF]

Front Reprod Health
Xu Q, Deng Y, Huo J, Yan Y, Zhang Y, Ma Y, Zhuan L.   +6 more
europepmc   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source