Ask about this productRelated genes to: PAFAH1B1 Blocking Peptide
- Gene:
- PAFAH1B1 NIH gene
- Name:
- platelet activating factor acetylhydrolase 1b regulatory subunit 1
- Previous symbol:
- MDCR, MDS
- Synonyms:
- LIS1, PAFAH, NudF
- Chromosome:
- 17p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-04-03
- Date modifiied:
- 2016-06-13
Related products to: PAFAH1B1 Blocking Peptide
Related articles to: PAFAH1B1 Blocking Peptide
- - Source: PubMed
Publication date: 2026/08/27
Xiol ClaraOlival JonathanMartorell LoretoGómez-Chiari MartaOrtigoza-Escobar Juan Darío - This study investigated the phenotypic and molecular basis of semen-quality variation in donkeys by integrating semen-quality assessment, reproductive ultrasonography and proteomic analysis. High-quality semen (H) and low-quality semen (L) groups were classified according to semen-quality assessment with the parameters of total sperm count (TSC), total motility (TM), progressive motility (PM), acrosome integrity rate (AIR), mitochondrial membrane potential (MMP), sperm abnormality percentage (PSA) and reactive oxygen species (ROS). Our results showed that the H group had greater testicular circumference (TC; 30.20 ± 0.30 cm vs. 28.10 ± 0.40 cm, p < 0.01), long axis of the spermatic cord (LASC; 39.20 ± 4.00 mm vs. 33.50 ± 3.20 mm, p < 0.05), cross-sectional area of the cauda epididymis (CSACE; 352.80 ± 21.60 vs. 281.30 ± 41.80 mm, p < 0.05). Proteomic analysis identified 6 differentially abundant proteins in seminal plasma (SPINKL, HSP-1, GBA2) and sperm (PAFAH1B1, SSMEM1, SPINK2), whose abundances showed potential associations with semen-quality traits and reproductive-organ biometry. The Spearman rank correlation analysis showed that GBA2 abundance was positively correlated with PM (ρ = 0.886), MMP (ρ = 0.943), TC (ρ = 0.986), CSACE (ρ = 1.000) and LASC (ρ = 0.829), and negatively correlated with PSA (ρ = -0.829), CA (ρ = -0.941) and ROS (ρ = -0.886). The other five proteins were positively correlated with PM (ρ > 0.829), while HSP-1, SPINKL, SSMEM1 and SPINK2 were also positively correlated with TC (ρ > 0.812). These findings suggest that semen-quality variation in donkeys is associated with differences in testicular and accessory sex gland biometry, and the 6 identified proteins are potentially associated with semen-quality variation and require further biological validation using targeted proteomics and antibody-based assays in independent populations. - Source: PubMed
Ma ChenReyimujiang YizaitiguliGuo YajunChang SiyuWu HaoPang YangYuanWeiLu ChengYang FanghaoZhang YimengLi NanLiu QingZeng Shenming - Classic lissencephaly from () haploinsufficiency presents with early, drug-resistant epilepsy; palliative strategies such as corpus callosotomy (CC) and vagus nerve stimulation (VNS) can be effective but are challenging to coordinate in children maintained on ketogenic dietary therapy (KDT). We report the case of a 6-year-old girl with de novo deletion who underwent total CC with VNS generator replacement for medically refractory epileptic spasms and focal seizures. Her post-operative course featured early breakthrough seizures responsive to benzodiazepine rescue, then a pediatric ICU (PICU) readmission for emesis, somnolence, edema, and nitrite-positive urinalysis; empiric ceftriaxone was administered while a pretreated catheterized urine culture returned commensal flora/mixed growth, a common interpretive challenge in neurogenic bladder. KDT-associated derangements included β-hydroxybutyrate 8.52 mmol/L, bicarbonate 9-16 mmol/L, and hypoglycemia to 48 mg/dL, managed with acetate-containing IV fluids, protocolized glucose rescue, and ratio adjustment. After a negative anatomic evaluation, erythromycin 75 mg QID improved tolerance to continuous peptide feeds, with near-resolution of emesis by discharge. This case highlights integrated CC+VNS care within KDT using proactive metabolic surveillance, stepwise dysmotility management, and antimicrobial stewardship in neurogenic bladder. - Source: PubMed
Publication date: 2026/06/13
Jalal AbdullahWaggoner RyanLau JimmyGeorge Andrew JSalman HanySalman Bassel - Structural variation (SV) is a major yet underappreciated source of genomic diversity that drives parasite adaptation. We generated the first comprehensive SV map of from 72 genomes across six endemic Asian regions, identifying 12,632 high-confidence SVs spanning 3.55% of the genome that delineate population structure and adaptive trajectories. SVs are non-randomly distributed and preferentially affect regulatory regions rather than coding sequences. Geographic isolation, demography, and positive selection collectively shape the SV landscape. Convergent deletions in , a sodium channel gene, occur in Southeast Asian populations under long-term praziquantel (PZQ) exposure and may alter its active pocket and transport activity. Taiwan-specific SVs in , , and are linked to reproductive adaptation and reduced pathogenicity. Expression assays confirm stage- and sex-specific regulation of these genes under PZQ treatment. These findings establish SVs as key drivers of drug response and host adaptation in , offering insights for precision surveillance and next-generation anthelmintic design. - Source: PubMed
Publication date: 2026/05/27
Liu QiYang KeZhang WeiXu ShuhuaHu WeiLu Yan - Classic lissencephaly is a malformation of cortical development that includes agyria and pachygyria. The major clinical symptoms are developmental impairment, muscular hypotonia, and drug-resistant epilepsy. The severity of the clinical phenotype depends on the associated gene and mutation. This study aimed to systematically investigate the genotype-specific course of the disease including neurodevelopmental outcome, medical complications, use of non-pharmacological supportive therapies, and its impact on the quality of life of the affected families. - Source: PubMed
Publication date: 2026/05/23
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