Ask about this productRelated genes to: LZTR1 Blocking Peptide
- Gene:
- LZTR1 NIH gene
- Name:
- leucine zipper like transcription regulator 1
- Previous symbol:
- -
- Synonyms:
- LZTR-1, BTBD29
- Chromosome:
- 22q11.21
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-19
- Date modifiied:
- 2019-04-23
Related products to: LZTR1 Blocking Peptide
Related articles to: LZTR1 Blocking Peptide
- - Source: PubMed
Publication date: 2026/04/17
An ShuxiaoChen JuanXu HuanhuanSong Gaojie - - Source: PubMed
Publication date: 2026/04/21
Morales-García MiguelRomero Ortiz Ana IsabelGarzón Furné Ana IsabelJiménez-Jaimez Juan - Genetic variants in components or regulators of the RAS-MAPK signaling pathway are causative for severe and early-onset hypertrophic cardiomyopathy (HCM) in patients with Noonan syndrome (NS). Despite paracrine communication being considered to play a pivotal role in the etiology of cardiomyopathies, there is a paucity of knowledge about the underlying pathomechanism that leads to the development of hypertrophic cardiomyopathy and cardiac fibrosis in NS. - Source: PubMed
Publication date: 2026/04/16
Fell JakobPavez-Giani MarioKoitka FabianKensah GeorgeSantos Gabriela Leaovan der Vorst Emiel P CLenz ChristofSalinas GabrielaBusley Alexandra VictoriaFedorenko AlisaHindmarsh RobinWolf Cordula MariaLutz SusanneHasenfuss GerdZimmermann Wolfram-HubertusWollnik BerndCyganek Lukas - This study aimed to describe the clinical manifestations and genetic variants of Noonan syndrome in a Colombian pediatric population and to identify the genes most frequently associated with specific phenotypic features. - Source: PubMed
Publication date: 2026/04/16
Martínez Rueda Silvia CDel Pilar Montilla MariaBaquero CarolinaGómez SusanaLopera Maria VictoriaZuluaga Nora AlejandraForero Adriana CarolinaGiraldo GustavoPineda Trujillo NicolásMartínez Juan CamiloDurán Ventura PaolaAlfaro Juan Manuel - Classical‑like Ehlers-Danlos syndrome (clEDS) due to TNXB variants is a hereditary connective tissue disorder that shares clinical features with classic EDS but differs genetically from the COL5A1/COL5A2‑associated cEDS subtype. The coexistence of inflammatory optic neuropathy and multiple nerve sheath tumors in this context is rarely reported. We describe a 26-year-old woman with genetically characterized clEDS (TNXB variant) who presented with subacute bilateral visual loss. Orbital magnetic resonance imaging (MRI) demonstrated bilateral optic nerve thickening and contrast enhancement consistent with active optic neuritis. Comprehensive neuroaxis magnetic resonance imaging revealed multiple intradural-extramedullary and intramedullary nodular lesions involving cranial and spinal segments, radiologically compatible with multiple nerve sheath tumors. Although imaging findings raised suspicion for schwannomatosis, molecular testing for SMARCB1, LZTR1, and NF2 variants were not available, precluding definitive classification according to updated consensus criteria. Antibody testing for AQP4-IgG and MOG-IgG was not performed, limiting etiologic clarification of bilateral optic neuritis. This case highlights the importance of comprehensive neuroaxis imaging in patients presenting with atypical optic neuritis and concurrent neural lesions. Rather than suggesting a syndromic association, it represents a rare co-occurrence requiring cautious interpretation and multidisciplinary evaluation. - Source: PubMed
Publication date: 2026/03/26
Larios A Byron RMendoza Blandón Mildred SabrinaBarahona Vargas SilmalilaRomero Ríos Christopher Kaleb