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A Affected person with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Improvement of Non-diabetic Polyneuropathy

 

  • Main polyneuropathy within the context of Seip-Berardinelli kind 1 seipinopathy, or congenital generalized lipodystrophy kind 1 (CGL1) has not been beforehand reported.

 

  • We report the case historical past of a 27 yr outdated feminine CGL1 affected person presenting with an uncommon further growth of non-diabetic peripheral neuropathy and studying disabilities in early adolescence. Entire exome sequencing (WES) of the affected person genome recognized a novel variant, homozygous for a 52 bp intronic deletion within the AGPAT2 locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely related to CGL1 seipinopathies, with no molecular proof for twin analysis.

        Mouse Leukemia Inhibitory Issue (LIF) ELISA Equipment

  • Purposeful research utilizing RNA remoted from affected person peripheral blood leucocytes confirmed irregular RNA splicing ensuing within the lack of 25 amino acids from the affected person AGPAT2 protein coding sequence. Stability and transcription ranges for the misspliced AGPAT2 mRNA in our affected person nonetheless remained regular.

 

  • Any AGPAT2 protein produced in our affected person is due to this fact more likely to be dysfunctional. Nonetheless, formal linkage of this deletion to the neuropathy noticed stays to be proven.

    Anti-Apaf-1 (human) Monoclonal Antibody (2E12)

  • The classical medical presentation of a affected person with AGPAT2-associated lipodystrophy reveals regular cognition and no growth of polyneuropathy. Cognitive disabilities and polyneuropathy are options related completely with medical CGL kind 2 arising from seipin (BSCL2) gene mutations. This case research means that in some genetic contextsAGPAT2 mutations may also produce phenotypes with major polyneuropathy.

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-Mu-48T 48T
EUR 489.00
  • Should the Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-Mu-96T 96T
EUR 635.00
  • Should the Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Mu-192 1 kit of 192 tests
EUR 1079.00

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Mu-48 1 kit of 48 tests
EUR 456.00

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Mu-96 1 kit of 96 tests
EUR 609.00

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-Mu-48Tests 48 Tests
EUR 489.00

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-Mu-96Tests 96 Tests
EUR 677.00

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-Mu-48Tests 48 Tests
EUR 511.00

Mouse Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-Mu-96Tests 96 Tests
EUR 709.00

anti-LIF

YF-PA12952 50 ug
EUR 363.00

Rabbit Polyclonal antibody Anti-CRBN

Anti-CRBN 50 µg
EUR 349.00

Anti-LIF Antibody

A01400 100ug/vial
EUR 294.00

anti- LIF antibody

LSMab09804 100 ug
EUR 386.00

anti- LIF antibody

FNab09804 100µg
EUR 548.75
  • Recommended dilution: WB: 1:200-1:1000
  • IHC: 1:50-1:500
  • Immunogen: leukemia inhibitory factor
  • Uniprot ID: P15018
  • Research Area: Signal Transduction, Immunology, Developmental biology, Neuroscience, Stem Cells

Anti-LIF Antibody

PA1562 100ug/vial
EUR 294.00

Anti-LIF Antibody

PB9036 100ug/vial
EUR 334.00

Anti-LIF antibody

STJ73631 100 µg
EUR 359.00

Anti-LIF antibody

STJ29846 100 µl
EUR 277.00

Anti-LIF antibody

STJ96472 200 µl
EUR 197.00

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-b-48T 48T
EUR 547.00
  • Should the Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-b-96T 96T
EUR 715.00
  • Should the Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-c-48T 48T
EUR 527.00
  • Should the Canine Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-c-96T 96T
EUR 688.00
  • Should the Canine Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-Hu-48T 48T
EUR 380.00
  • Should the Human Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-Hu-96T 96T
EUR 485.00
  • Should the Human Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-p-48T 48T
EUR 547.00
  • Should the Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-p-96T 96T
EUR 715.00
  • Should the Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Rat Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-Ra-48T 48T
EUR 508.00
  • Should the Rat Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Rat Leukemia Inhibitory Factor (LIF) ELISA Kit

DLR-LIF-Ra-96T 96T
EUR 661.00
  • Should the Rat Leukemia Inhibitory Factor (LIF) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement.

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-b-192 1 kit of 192 tests
EUR 1231.00

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-b-48 1 kit of 48 tests
EUR 510.00

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-b-96 1 kit of 96 tests
EUR 685.00

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-c-192 1 kit of 192 tests
EUR 1180.00

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-c-48 1 kit of 48 tests
EUR 492.00

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-c-96 1 kit of 96 tests
EUR 660.00

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Hu-192 1 kit of 192 tests
EUR 795.00

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Hu-48 1 kit of 48 tests
EUR 357.00

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Hu-96 1 kit of 96 tests
EUR 467.00

Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-p-192 1 kit of 192 tests
EUR 1231.00

Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-p-48 1 kit of 48 tests
EUR 510.00

Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-p-96 1 kit of 96 tests
EUR 685.00

Rat Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Ra-192 1 kit of 192 tests
EUR 1130.00

Rat Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Ra-48 1 kit of 48 tests
EUR 474.00

Rat Leukemia Inhibitory Factor (LIF) ELISA Kit

DL-LIF-Ra-96 1 kit of 96 tests
EUR 635.00

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-b-48Tests 48 Tests
EUR 555.00

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-b-96Tests 96 Tests
EUR 771.00

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-c-48Tests 48 Tests
EUR 533.00

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-c-96Tests 96 Tests
EUR 740.00

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-Hu-48Tests 48 Tests
EUR 367.00

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-Hu-96Tests 96 Tests
EUR 502.00

Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-p-48Tests 48 Tests
EUR 555.00

Porcine Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-p-96Tests 96 Tests
EUR 771.00

Rat Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-Ra-48Tests 48 Tests
EUR 511.00

Rat Leukemia Inhibitory Factor (LIF) ELISA Kit

RD-LIF-Ra-96Tests 96 Tests
EUR 709.00

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-b-48Tests 48 Tests
EUR 580.00

Bovine Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-b-96Tests 96 Tests
EUR 807.00

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-c-48Tests 48 Tests
EUR 557.00

Canine Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-c-96Tests 96 Tests
EUR 774.00

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-Hu-48Tests 48 Tests
EUR 383.00

Human Leukemia Inhibitory Factor (LIF) ELISA Kit

RDR-LIF-Hu-96Tests 96 Tests
EUR 525.00

Novel Design of Eco-Pleasant Tremendous Elastomer Supplies With Optimized Arduous Segments Micro-Construction: Towards Subsequent-Technology Excessive-Efficiency Tires.

 

  • Not too long ago, sustainable growth has develop into a major concern globally, and the power disaster is among the prime priorities. From the attitude of the commercial software of polymeric supplies, rubber tires are critically necessary in our each day lives. Nonetheless, the power consumption of tires can attain 6% of the world’s whole power consumption each year.

 

  • In the meantime, it’s calculated that round 5% of carbon dioxide comes from the emission of tire rolling as a consequence of power consumption. To beat these extreme power and environmental challenges, designing and growing a high-performance fuel-saving tire is of paramount significance. Herein, a next-generation, eco-friendly tremendous elastomer materials based mostly on macromolecular meeting expertise has been fabricated.

       AXMIR-1 RNA oligo anti-miRNA-1-3p with Xmotif

  • Hydroxyl-terminated solution-polymerized styrene-butadiene rubber (HTSSBR) with excessive vinyl contents ready by anionic polymerization is used as versatile tender segments to acquire glorious moist skid resistance. Moreover, extremely symmetrical 1,5-naphthalene diisocyanate (NDI), completely different proportions of chain extender, and the cross-linking agent with average molecular size are chosen as inflexible laborious segments to realize simultaneous excessive warmth resistance.

 

  • By way of this strategy, a homogeneous community supported by uniformly distributed laborious section nanoparticles is fashioned as a result of tender segments with equal size are chemically end-linked by the laborious segments. This super elastomer materials displays glorious put on resistance and low rolling resistance.

          Anti-Cytokeratin 1 Rabbit Monoclonal Antibody

  • Extra importantly, the wear and tear resistance, rolling resistance, and wet-skid resistance are diminished by 85.4, 42.3, and 20.8%, respectively, in comparison with the elastomeric materials conventionally used for tire. By profiting from this glorious complete service efficiency, the long-standing problem of the “magic triangle” plaguing the rubber tire business for nearly 100 years is resolved. It’s anticipated that this newly designed and fabricated elastomeric materials tailor-made for tires will develop into the subsequent era product, which may exhibit excessive potential for considerably reducing the gas consumption and decreasing the emission of carbon dioxide.

Polyclonal Goat anti-GST α-form

GST-ANTI-1 50 uL
EUR 280.00

Anti-ALK Rabbit Monoclonal Antibody, Clone#RM361

M00301-1 100uL
EUR 385.00

Anti-PARP-1 Antibody

A00122-1 100ul
EUR 397.00

Anti-Presenilin 1 Antibody

A00138-1 100ul
EUR 397.00

Anti-PAI-1 Antibody

A00637-1 100ul
EUR 397.00

Anti-Flk-1 Antibody

A00901-1 100ul
EUR 397.00

Anti-EDG-1 Antibody

A01502-1 100ul
EUR 397.00

Anti-ROBO-1 Antibody

A01530-1 100ug
EUR 455.00

Anti-Bag-1 Antibody

A02423-1 50 ul
EUR 397.00

Anti-TUB 1 Antibody

A02917-1 100ug/vial
EUR 294.00

Anti-Dok-1 Antibody

A03039-1 100ul
EUR 397.00

Anti-Cerebellin 1 Antibody

A09176-1 100ul
EUR 397.00

Anti-DOC-1 Antibody

A09467-1 100ul
EUR 397.00

Anti-TFIIIB90-1 Antibody

A03761-1 100ul
EUR 397.00

Anti-Atrophin-1 Antibody

A03828-1 100ul
EUR 397.00

Anti-CNG-1 Antibody

A05494-1 100ul
EUR 397.00

Anti-NPDC-1 Antibody

A12846-1 100ul
EUR 397.00

Anti-Periphilin 1 Antibody

A06996-1 100ul
EUR 397.00

Anti-Lyl-1 Antibody

A07491-1 100ul
EUR 397.00

Anti-GLI-1 Antibody

A07972-1 100ul
EUR 397.00

Anti-Apaf-1 (human) Monoclonal Antibody (2E12)

M00889-1 100ug
EUR 432.00

Anti-ALK-1 antibody

STJ91563 200 µl
EUR 197.00

Anti-ALK-1 antibody

STJ96547 200 µl
EUR 197.00

Anti-HO-1 Monoclonal Antibody (HO-1-2)

M00253-1 1mg
EUR 397.00

Anti-TNF Receptor 1 Antibody

A00294-1 200ug
EUR 522.00

Anti-Galectin 1/Lgals1 Antibody

A00470-1 100ug/vial
EUR 334.00

Anti-LOX-1/OLR1 Antibody

A00760-1 100ug/vial
EUR 294.00

Anti-Syndecan-1/SDC1 Antibody

A00991-1 100ug/vial
EUR 294.00

Anti-IRAK-1/IRAK1 Antibody

A01021-1 100ug/vial
EUR 334.00

Anti-Neurexin 1/NRXN1 Antibody

A01490-1 100ug/vial
EUR 334.00

Anti-Hexokinase 1/HK1 Antibody

A01504-1 100ug/vial
EUR 334.00

Anti-Synaptotagmin 1/SYT1 Antibody

A02314-1 100ug/vial
EUR 334.00

Anti-Syntenin-1 Monoclonal Antibody

A02475-1 100ul
EUR 397.00

Anti-Dsg1/Desmoglein 1 Antibody

A02655-1 100ul
EUR 397.00

Anti-CAF-1 p150 Antibody

A02732-1 100ul
EUR 397.00

Anti-Talin 1/TLN1 Antibody

A02859-1 100ug/vial
EUR 334.00

Anti-Islet 1/ISL1 Antibody

A02969-1 100ug/vial
EUR 334.00

Anti-Relaxin 1/RLN1 Antibody

A08367-1 100ug/vial
EUR 334.00

Anti-TCP-1 zeta Antibody

A09373-1 100ul
EUR 397.00

Anti-CHST8/Galnac4St 1 Antibody

A10989-1 100ul
EUR 397.00

Anti-Musashi 1/Msi1 Antibody

A05052-1 100ug/vial
EUR 334.00

Anti-Pyrophosphatase 1/PPA1 Antibody

A07485-1 100ug/vial
EUR 334.00

Anti-TCP-1 eta Antibody

A08169-1 100ul
EUR 397.00

Anti-Dynamin 1 Monoclonal Antibody

M02536-1 100ug
EUR 397.00

Anti-Esrp-1 Monoclonal Antibody

M06068-1 100uL
EUR 443.00

Anti-Presenilin 1 Monoclonal Antibody

M00138-1 100ug
EUR 397.00

Anti-DJ-1 Monoclonal Antibody

M00757-1 100ul
EUR 397.00

Anti-Enolase 1 Monoclonal Antibody

M01250-1 100ul
EUR 397.00

Anti-Galectin 1 Monoclonal Antibody

M00470-1 100ug
EUR 397.00

Anti-Angiopoietin 1/ANGPT1 Antibody

PA1333-1 100ug/vial
EUR 334.00

Anti-Galectin 1/LGALS1 Antibody

PB9240-1 100ug/vial
EUR 334.00

Anti-P-glycoprotein (human) Monoclonal Antibody (JSB-1)

M00049-1 125ug
EUR 586.00

AXMIR-1 RNA oligo anti-miRNA-1-3p with Xmotif

AXMIR-1 10 reactions
EUR 438.00
  • Category: Exosome

Anti-BOB-1/OBF-1 Rabbit Monoclonal Antibody, Clone#RM378

M04431-1 100uL
EUR 385.00

Anti-HIF-1 alpha/HIF1A Antibody

A00013-1 100ug/vial
EUR 294.00

Anti-Cleaved-Notch 1 (V1754) Antibody

A00033-1 100ul
EUR 397.00

Anti-HDAC-1 (C-terminus) Antibody

A00256-1 100uL
EUR 443.00

Anti-VEGF Receptor 1/FLT1 Antibody

A00534-1 100ug/vial
EUR 294.00

Anti-Liver Carboxylesterase 1/CES1 Antibody

A01741-1 100ug/vial
EUR 334.00

Anti-EBP50/NHERF-1/SLC9A3R1 Antibody

A02427-1 100ug/vial
EUR 334.00

Anti-IL1R2/Il 1 Rii Antibody

A03106-1 1 ml
EUR 397.00

Anti-Hyaluronan synthase 1/HAS1 Antibody

A04784-1 100ug/vial
EUR 334.00

Anti-CELSR3/Flamingo Homolog 1 Antibody

A07204-1 100ul
EUR 397.00

Anti-LPCAT2/Acyltransferase Like 1 Antibody

A07471-1 100ul
EUR 397.00

Anti-Mitofusin 1 Antibody (monoclonal, 3H3)

M02172-1 100ug/vial
EUR 294.00

Anti-Cytokeratin 1 Rabbit Monoclonal Antibody

M01639-1 100ug/vial
EUR 397.00

Anti-Sumo 1 Rabbit Monoclonal Antibody

M00631-1 100ug/vial
EUR 397.00

Anti-Integrin alpha 1/ITGA1 Antibody

PA1045-1 100ug/vial
EUR 334.00
  • netheless remained regular. Any AGPAT2 protein produced in our affected person is due to this fact more likely to be dysfunctional. Nonetheless, formal linkage of this deletion to the neuropathy noticed stays to be proven. The classical medical presentation of a affected person with AGPAT2-associated lipodystrophy reveals regular cognition and no development of polyneuropathy. Cognitive disabilities and pol

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