C326 / Amgen - LARVOL DELTA

Profiling of Bioactive Compounds and Mineral Composition of Purple and Yellow Passion Fruit from Northeastern India: Nutritional Implications for Tribal Communities. (PubMed, Plant Foods Hum Nutr) - "Conversely, yellow passion fruit had higher vitamin C (326.61 mg/100 g) and flavonoid content (143.55 mg/100 g) than purple (130.64 mg/100 g and 120.60 mg/100 g, respectively)...Mineral analysis indicated considerably higher zinc in yellow (71.25 ppm) as compared to purple (35.04 ppm). These results highlight genotype-specific nutritional richness, supporting the potential of passion fruit for functional food and nutraceutical applications."

Journal

Uniaxial-Pressure Control of Excitonic Fluctuations and Monoclinic Distortions in Ta_{2}NiSe_{5}. (PubMed, Phys Rev Lett) - "Ta_{2}NiSe_{5} undergoes a phase transition characterized by the opening of an energy gap and a reduction in its crystal symmetry below T_{c}=326  K...Compressive strain reduces monoclinic distortions while enhancing excitonic fluctuations. Such disparate behavior suggests that many-body effects may significantly amplify exciton fluctuations even when monoclinic distortions are minimized, thereby supporting the excitonic nature of the phase transition."

Journal

Acute Sensory And Gastrointestinal Responses To Protein Intake Prior To Resistance Training (ACSM 2025) - "Both products showed good acceptance and reasonable tolerance, hence they could be considered as options for protein intake before resistance training.Funded by Dos Pinos Milk Producers Coop. of Costa Rica under a cooperation agreement with University of Costa Rica for research project VI-838-C4-326."

Antioxidant MitoQ increases viability of human corneal endothelial cells with congenital hereditary endothelial dystrophy-associated SLC4A11 mutations. (PubMed, Ophthalmic Genet) - "SLC4A11 wildtype (SLC4A11WT) and mutant (SLC4A11MU) hCEnC lines were created to express either SLC4A11 variant 2 (V2) or variant 3 (V3) by stable transduction of SLC4A11-/- hCEnC-21T with lentiviruses containing either SLC4A11WT or one of the following mutations: V2 (V3) mutants c.374 G>A (c.326 G>A) (CHED), c.1813C>T (c.1765C>T) (CHED), c.2263C>T (c.2215C>T) (CHED), or c.2224 G>A (c.2176 G>A) (FECD4). The FECD4-associated mutant hCEnC line treated with 0.01 μM MitoQ showed no significant increase in cell viability compared to untreated following exposure to tBH. Media supplementation with antioxidant MitoQ has beneficial effects on cell viability in hCEnC harboring CHED-associated SLC4A11 mutations following exposure to tBH-induced oxidative stress."

Journal • Ophthalmology • Transplantation • CD4 • SLC4A1

Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene. (PubMed, Int J Mol Sci) - "After several surgical interventions, the patient was efficiently treated with an oral selective MEK inhibitor, selumetinib, which resulted in a rapid reduction of the tumor volume. Molecular analysis of the NF1 gene revealed a c.2326-2 A>G splice-site mutation in the clinically unaffected skin, peripheral blood sample, and plexiform neurofibroma, which explains the general clinical symptoms. Furthermore, a novel likely pathogenic variant, c.4933dupC (p.Leu1645Profs*7), has been identified exclusively in the girl's plexiform neurofibromas. This second-hit mutation can explain the extremely extensive segmental involvement."

Journal • Brain Cancer • CNS Disorders • Fibrosis • Genetic Disorders • Neurofibromatosis • Neurofibrosarcoma • Oncology • Psychiatry • Sarcoma • Solid Tumor • NF1

Disentangling Lattice and Electronic Instabilities in the Excitonic Insulator Candidate Ta_{2}NiSe_{5} by Nonequilibrium Spectroscopy. (PubMed, Phys Rev Lett) - "Ta_{2}NiSe_{5} is an excitonic insulator candidate showing the semiconductor or semimetal-to-insulator (SI) transition below T_{c}=326  K...The combined nonequilibrium spectroscopic measurements of the lattice and electronic states reveal the presence of a photoexcited metastable state where the insulating gap is suppressed, but the low-temperature structural distortion is preserved. We conclude that electron correlations play a vital role in the SI transition of Ta_{2}NiSe_{5}."

Journal

Aqueous humor as a surrogate biomarker for retinoblastoma tumor tissue. (PubMed, J AAPOS) - "The pathogenic RB1 variant results from AH in all 3 eyes were concordant with direct tumor DNA sampling, suggesting that AH can serve as a surrogate for tumor tissue. Because the AH can be accessed during treatment, specific testing can be performed even in the absence of enucleation."

Biomarker • Journal • Eye Cancer • Oncology • Retinal Disorders • Retinoblastoma • Solid Tumor • RB1

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family (ERA-EDTA 2022) - "RESULTS MPS revealed a novel frameshift variant [c.326_350dup, p.(Ser119Profs*119), NM_001 204 286.1] in MUC1 , which co-segregated with the renal phenotype in the family...This study highlights that MUC1 variants positioned before the first VNTR region can lead to ADTKD and that genetic testing in patients with suspected ADTKD-MUC1 should also include regions outside of the VNTR. Additionally, this study confirms the relevance of MPS as a tool to screen adult patients with early-onset kidney failure."

Chronic Kidney Disease • Fibrosis • Immunology • Nephrology • Renal Disease • MUC1

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. (PubMed, Hum Mol Genet) - "This study highlights medically actionable variants that are specific to the Middle Eastern Qatari population."

Journal • Cardiovascular • LMNA

Case report: A non-obstructive azoospermia patient with heat shock factor-2 mutation. (PubMed, Medicine (Baltimore)) - "A novel deletion-insertion variation c.326_326delinsGGAAGGTGAGCTATTGT in the exon 3 of HSF2 gene HSF2 is predicted to be pathogenic and associated with the occurrence of NOA."

Clinical • Journal • Infertility • Sexual Disorders

Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification. (PubMed, Blood Coagul Fibrinolysis) - "Five mutations were identified including three nonsense mutations c.841C>T (p.Gln263X), c.1107C>A (p.Tyr351X) and c.1033A>T (p.Lys327X), respectively, one frameshift mutation c.1325delT (p.Leu424CysfsX8), and one splicing mutation c.326-1G>A. c.1033A>T (p. Lys327X), a novel mutation which lead to a premature stop codon at amino acid position 327, it may have an influence on protein characteristics and cause the corresponding disease."

Journal • Hematological Disorders • Hemophilia • Mood Disorders

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome. (PubMed, Acta Derm Venereol) - "Direct sequencing analysis of LMX1B revealed that family 1 and family 2 were heterozygous for the mutations c.140-1G>C and c.326+1G>C, respectively...Immunofluorescence studies with antibodies against components of the epidermal basement membrane zone revealed a normal expression pattern among the components, including type IV collagen. These data suggest that nail dysplasia in patients with nail-patella syndrome is not caused by structural abnormalities of the epidermal basement membrane."

Journal

Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor Ⅺ Deficiency (PubMed, Sichuan Da Xue Xue Bao Yi Xue Ban) - "The proband-2 had a homozygous mutation of c.841C>T (p.Gln263X) in exon 8, and this mutation was also found in her father, mother, daughter and son. The c.326-1G>A, c.1107C>A(p.Tyr351X) and c.841C>T (p.Gln263X) might be the molecular pathogenesis for two probands with hereditary coagulation factor Ⅺ deficiency."

Journal

NOVEL PRENATAL DIAGNOSIS OF PROTEIN C DEFICIENCY AND PRIMARY PROPHYLAXIS WITH PROTEIN C CONCENTRATE (ASPHO 2020) - "Results demonstrated a compound heterozygous mutation (c.699G>T; c.326_330dup)...He was transitioned to anticoagulation with enoxaparin and discharged to home. SPCD has proven to be a difficult disease to study due to its scarcity, but it remains clinically significant and devastating to patients. This case series highlights a potentially clinically relevant genetic variant and demonstrates effective primary prophylaxis."

MRI

BMP4 mutations in tooth agenesis and low bone mass. (PubMed, Arch Oral Biol) - "We identified 4 mutations in the BMP4 gene in 120 TA patients. To our knowledge, this is the first study to describe human skeletal diseases associated with BMP4 mutations."

Journal

Effects of Adding Oxycodone to Ropivacaine on Labor Analgesia: A Randomized Controlled Trial. (PubMed, Clin J Pain) - "This study demonstrates that epidural oxycodone may accelerate the onset of analgesia and obviously prolong the duration of analgesia during labor without increasing adverse effects associated with the neonate. However, it may cause a higher incidence of maternal pruritus. (Registration number: ChiCTR1800016483)."

Clinical • Journal

Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society. (PubMed, J Clin Lipidol) - "We have identified 5 novel pathogenic mutations: 2 in LPL, 1 in GPIHBP1, and 2 in the APOA5 gene. The genetic defaults accounting for the LPL activity deficiency of 23 of them have been clearly identified and 3 patients, who harbored mutations in heterozygosity, were diagnosed based on LPL activity deficiency, which raises the question of the involvement of new genes in the manifestation of FCS."

Clinical • Journal

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation. (PubMed, Front Neurol) - "The family was referred for genetic testing and exome sequencing detected a homozygous novel truncating mutation c.4326 T>A (p.Tyr1442) in VPS13A in all affected siblings. With this case, we present autosomal recessive epilepsy as the predominant phenotype of ChAc with a new homozygous VPS13A mutation and provide pathological structural and molecular neuroimaging findings."

Journal