human Bence Jones lambda
- Known as:
- H. sapiens Bence Jones lambda
- Catalog number:
- P 017
- Product Quantity:
- 1.0 mg
- Category:
- -
- Supplier:
- Nordic Immunological Lab
- Gene target:
- human Bence Jones lambda
Related genes to: human Bence Jones lambda
- Gene:
- CRYL1 NIH gene
- Name:
- crystallin lambda 1
- Previous symbol:
- -
- Synonyms:
- GDH, lambda-CRY, MGC149525, MGC149526
- Chromosome:
- 13q12.11
- Locus Type:
- gene with protein product
- Date approved:
- 2002-02-22
- Date modifiied:
- 2016-10-05
Related products to: human Bence Jones lambda
Related articles to: human Bence Jones lambda
- Identifying novel biomarkers and elucidating the underlying molecular mechanisms are crucial for improving the diagnosis and treatment of advanced clear cell renal cell carcinoma (ccRCC). In our previous investigations, crystallin lambda 1 (CRYL1) was preliminarily identified as an emerging tumor suppressor. The present study expands upon this observation by further exploring its tumor-suppressive role and the underlying molecular mechanisms. - Source: PubMed
Publication date: 2026/05/04
Xu YipengLi PengLiu XigaoZhao GuananWu QiZhang HuijiangYou ShengjieZhou QiyinWang HeLi ZiyunYe Junjie - This review integrates molecular, clinical, and translational data to provide an updated understanding of -related deafness and its emerging treatment landscape. Truncating mutations in typically cause severe-profound hearing loss (HL) phenotypes, whereas non-truncating alleles are often associated with milder or progressive phenotypes. Geographic variation in variant prevalence contributes to regional differences in disease burden. Beyond the coding region, deletions and cis-regulatory mutations within the DFNB1 locus, including and , can influence HL severity when compounded with other pathogenic variants. DFNB1 hearing loss generally presents as symmetric, bilateral, and flat to gently sloping across frequencies, with preserved cochlear neurons that support excellent cochlear implant (CI) outcomes. Early implantation CI in -positive children yields superior speech and language development compared with non- etiologies. Emerging therapies include dual-AAV (AAV1 + AAV-ie/ScPro) delivery, achieving cell-specific Cx26 restoration, adenine base-editing for dominant-negative variants, and allele-specific suppression using RNA interference or antisense oligonucleotides. Concurrent progress in human iPSC-derived cochlear organoids provides a physiologic model to advance toward clinical trials. By integrating genotype-phenotype correlations, natural history insights, and advances in molecular therapeutics, this review presents a comprehensive update on -related HL and highlights how gene-based strategies are poised to change the treatment of this condition. - Source: PubMed
Publication date: 2026/01/03
Morris Julia AnneGonzalez TomasBlanton Susan HAngeli Simon IgnacioLiu Xue Zhong - Liver enzymes are critical biomarkers of hepatic metabolism, injury, and systemic homeostasis. Their genetic architecture remains understudied in African-ancestry populations. We addressed this knowledge gap by conducting genome-wide analyses of four liver enzymes in over 55,000 individuals of African ancestry from six cohorts across sub-Saharan Africa, the United States, and the United Kingdom. We identified 31 significant loci, of which 14 were novel, including and for alkaline phosphatase, for alanine aminotransferase, and for gamma-glutamyl transferase. Several novel variants exhibited high allele frequencies in African-ancestry populations but were rare or absent in other global populations. Functional annotation indicated that lead variants overlapped liver-active regulatory regions, histone marks, and hepatocyte eQTLs. Colocalization and enrichment analyses implicated pathways related to lipid and carbohydrate metabolism, glycosylation, and immune function. Our findings expand the catalog of genetic variants influencing liver enzymes and advance understanding of the biological mechanisms underlying liver function. - Source: PubMed
Publication date: 2025/07/24
Mogire Reagan MChen GuanjieDoumatey Ayo PMeeks Karlijn A CGouveia Mateus HZhou JieBentley Amy RShriner DanielAdeyemo Adebowale ARotimi Charles N - Genetic testing is essential to the diagnosis of nonsyndromic bilateral sensorineural hearing loss (BSNHL), where pathogenic variants in are the most common cause. Current testing strategies often fail to provide a comprehensive diagnosis and typically require the use of multiple testing methodologies. This study evaluated the diagnostic utility of genome sequencing (GS) in a cohort with heterozygosity for pathogenic variants and BSNHL. - Source: PubMed
Publication date: 2025/12/01
Rentas StefanRajagopalan RamakrishnanAyazseven TolgaSarmady MahdiRaible Sarah EKrantz Ian DAbou Tayoun Ahmad N - Many copy number variants (CNVs) are implicated in neurodevelopmental disability, but exhibit incomplete penetrance. The definition of penetrance is often unclear. In published literature, penetrance typically includes the background risk of disease, while clinicians tend to exclude risks unrelated to the genetic variant. We propose a more clinically relevant definition of penetrance and develop a new formula for this. These changes are applied to existing data sources to produce updated penetrance estimates. Our findings indicate that most CNVs studied have significantly lower penetrance than previously published. Eleven CNVs, previously described as low-penetrant, are recalculated as having a penetrance close to 0% for intellectual disability. These include 1q21.1 proximal duplications [RBM8A], 2q11.2 deletions [TMEM127], 2q13 proximal deletions and duplications [NPHP1], 6q16 duplications [SIM1], 13q12 deletions [CRYL1], 15q11.2 duplications [NIPA1, NIPA2], 15q13.3 duplications [CHRNA7], 16p12.2 duplications [CDR2], 16p13.11 duplications [MYH11] and Xp22.3 duplications [SHOX]. Previous estimates of CNV penetrance, which ranged from 10-40% have been recalculated as 1-10%. In conclusion, many previously published estimates of CNV penetrance are inflated. Re-evaluation of existing data reveals lower and more accurate penetrance estimates for intellectual disability. This has important implications for diagnosis, genetic counselling, and prenatal reporting of recurrent CNVs. - Source: PubMed
Publication date: 2025/10/15
Goh ShuxiangDudding-Byth TracyPinese MarkKirk Edwin P