Results 171 to 180 of about 132,731 (277)

Homozygous <i>FAT1</i> frameshift mutation linked to glomerulotubular nephropathy with impaired cell adhesion and Rap1 signaling. [PDF]

Ren Fail
Fei Y, Jin Z, He L, Zhang M, Jiao Q, Liu Q, Lin F, Wang W, Wang N, Cao A, Cheng D.   +10 more
europepmc   +1 more source

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12. [PDF]

BMC Med Genomics, 2023
Daneshi A, Garshasbi M, Farhadi M, Falavarjani KG, Vafaee-Shahi M, Almadani N, Zabihi M, Ghalavand MA, Falah M.   +8 more
europepmc   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Neurodevelopmental disorder due to a frameshift mutation in the <i>GRIN2A</i> gene: a case report. [PDF]

Transl Pediatr
Xu C, Wang ML, Ling WH, Tang JH.
europepmc   +1 more source

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia. [PDF]

Front Endocrinol (Lausanne), 2023
Huang F, Zeng J, Liu D, Zhang J, Liang B, Gao J, Yan R, Shi X, Chen J, Song W, Huang HL.   +10 more
europepmc   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Lumbar disc herniation in osteogenesis imperfecta associated with a COL1A1 frameshift mutation: A case report and review. [PDF]

Medicine (Baltimore)
Chen W, Ling G, Chen H, Chen S, Huang J, Lin C, Liu C.   +6 more
europepmc   +1 more source

Crx-L253X mutation produces dominant photoreceptor defects in TVRM65 mice [PDF]

, 2017
Chen, Shiming, Hennig, Anne K, Linne, Courtney D, Ruzycki, Philip A   +3 more
core   +2 more sources

Clinicopathological characteristics of patients with inoperable non‐small cell lung cancer harboring circulating NRF2 pathway mutations

The Journal of Pathology, EarlyView.
Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen, Satu Tiainen, Jouni Kujala, Linnea Muhonen, Ponnuswamy Mohanasundaram, Tuomas Tikkanen, Ina Pöhner, Tommi Patinen, Simone Adinolfi, Juha P Väyrynen, Päivi Auvinen, Arto Mannermaa, Petri Pölönen, Tuomas Rauramaa, Anna‐Liisa Levonen   +14 more
wiley   +1 more source

<i>De novo</i> frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case report. [PDF]

Front Pediatr
Lin S, Qi Y, Xie H, Sun X, Wang W, Jiang K.   +5 more
europepmc   +1 more source