Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.

Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate diagnosis.

We explored the genetic landscape of retinal disorders in consanguineous families from North-Western Pakistan, harboring a population of approximately 35 million inhabitants that remains relatively isolated and highly inbred (~50% consanguinity).

We leveraged on the high degree of consanguinity by applying genome-wide high-density single-nucleotide polymorphism (SNP) genotyping followed by targeted Sanger sequencing of candidate gene(s) lying inside autozygous intervals. In addition, we performed whole-exome sequencing (WES) on at least one proband per family.

GFP Expressing Human Brain Astrocytes

HMP201 500,000 Cells - Frozen
EUR 1354.00

Immortalized Human Astrocytes, fetal - SV40

T0280 1x106 cells / 1.0 ml Ask for price

Immortalized Human Astrocytes, fetal - hTERT

T0281 1x106 cells / 1.0 ml Ask for price

Immortalized Mouse Astrocytes - SV40T (IMA2.1)

T0289 1x106 cells / 1.0 ml Ask for price

Phosphoprotein Enriched in Astrocytes 15 Protein

20-abx262863
  • EUR 328.00
  • EUR 6397.00
  • EUR 230.00
  • 10 ug
  • 1 mg
  • 2 µg
  • Shipped within 5-10 working days.

Mouse Brain PrimaCell8: Normal Nerve Astrocytes

2-82017 1 Kit Ask for price

Rat Brain PrimaCell7: Normal Nerve Astrocytes

2-82518 1 Kit Ask for price

Human Brain PrimaCell8: Normal Nerve Astrocytes

2-96020 1 Kit Ask for price

Astrocytes Mature (iPSC from Blood Cells; Male)

ASE-9322M 1 vial (1 x 10^6)
EUR 455.00
Description: 12 month

Astrocytes Mature (iPSC from Blood Cells; Female)

ASE-9322MF 1 vial (1 x 10^6)
EUR 455.00
Description: 12 month

Astrocytes Precursors (iPSC from Blood Cells; Male)

ASE-9322P 1 vial (1 x 10^6)
EUR 374.00
Description: 12 month

Astrocytes Precursors (iPSC from Blood Cells; Female)

ASE-9322PF 1 vial (1 x 10^6)
EUR 374.00
Description: 12 month

Recombinant Human Phosphoprotein Enriched in Astrocytes 15

7-05845 2µg Ask for price

Recombinant Human Phosphoprotein Enriched in Astrocytes 15

7-05846 10µg Ask for price

Recombinant Human Phosphoprotein Enriched in Astrocytes 15

7-05847 1mg Ask for price

Rat Brain PrimaCell7: Normal Nerve Astrocytes Growth Medium

9-25018 5 x 100 ml Ask for price

Mouse Brain PrimaCell8: Normal Nerve Astrocytes Growth Medium

9-32017 5 x 100 ml Ask for price

Human Brain PrimaCell8: Normal Nerve Astrocytes Growth Medium

9-46020 5 x 100 ml Ask for price

Astrocytes Precursors Starter Kit (iPSC from Blood Cells; Male)

ASE-9322PK 1 Kit
EUR 414.50
Description: 12 month

Astrocytes Precursors Starter Kit (iPSC from Blood Cells; Female)

ASE-9322PKF 1 Kit
EUR 414.50
Description: 12 month

Human Brain Tissue Preparation Buffer 8: Normal Nerve Astrocytes

9-80020 1 x 100 ml Ask for price

Mouse Brain Tissue Preparation Buffer 8: Normal Nerve Astrocytes

9-80131 1 x 100 ml Ask for price

Rat Brain Tissue Preparation Buffer 7: Normal Nerve Astrocytes

9-80225 1 x 100 ml Ask for price

PEA15 Phosphoprotein Enriched in Astrocytes 15 Human Recombinant Protein

PROTQ15121 Regular: 10ug
EUR 317.00
Description: PEA15 Human Recombinant produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 130 amino acids (1-130 a.a.) and having a molecular mass of 15kDa.;The PEA15 is purified by proprietary chromatographic techniques.

Cyclin A1 (Cyclin A1) Antibody

20-abx013053
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg
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Cyclin A1 (Cyclin A1) Antibody

abx038316-100ug 100 ug
EUR 391.00
  • Shipped within 5-10 working days.

Cyclin A1 (Cyclin A1) Antibody

20-abx134059
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
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Cyclin A1 (Cyclin A1) Antibody

20-abx116790
  • EUR 732.00
  • EUR 398.00
  • 150 ul
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Cyclin A1 (Cyclin A1) Antibody

abx232120-100ug 100 ug
EUR 481.00
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Protein S100-A1 (S100-A1) Antibody

20-abx110144
  • EUR 411.00
  • EUR 1845.00
  • EUR 599.00
  • EUR 182.00
  • EUR 300.00
  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug
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Bafilomycin A1

B038-1MG 1 mg
EUR 285.00

Bafilomycin A1

B038-5MG 5 mg
EUR 924.00

A1 antibody

70R-11802 100 ug
EUR 418.00
Description: Rabbit polyclonal A1 antibody

Bafilomycin A1

A8627-.5 500 µg
EUR 168.00
Description: Bafilomycin A1 is a selective inhibitor of vacuolar H+ ATPases (V-ATPases) with I50 values of 4-400 nmol/mg.

Bafilomycin A1

A8627-1 1 mg
EUR 276.00
Description: Bafilomycin A1 is a selective inhibitor of vacuolar H+ ATPases (V-ATPases) with I50 values of 4-400 nmol/mg.

Bafilomycin A1

A8627-5 5 mg
EUR 996.00
Description: Bafilomycin A1 is a selective inhibitor of vacuolar H+ ATPases (V-ATPases) with I50 values of 4-400 nmol/mg.

Antimycin A1

A127-0.5MG 0.5 mg
EUR 272.00

Antimycin A1

A127-2.5MG 2.5 mg
EUR 878.00

Bafilomycin A1

1829-250
EUR 675.00

Bafilomycin A1

1829-50
EUR 218.00

A1 Antibody

3401-100
EUR 327.00

A1 Antibody

3401-30T
EUR 146.00

Bafilomycin A1

20-abx076625
  • EUR 370.00
  • EUR 829.00
  • 100 ug
  • 500 ug
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Bafilomycin A1

ADC-P-065 unit Ask for price

Leucomycin A1

C4182-1 1 mg
EUR 466.00
Description: Leucomycin A1, a major metabolite extracted from the leucomycin complex, is a major macrocyclic lactone antibiotics produced by Streptomyces kitasatoensis. Leucomycin A1 is one of the more potent members of leucomycin complex.

Leucomycin A1

C4182-5 5 mg
EUR 1407.00
Description: Leucomycin A1, a major metabolite extracted from the leucomycin complex, is a major macrocyclic lactone antibiotics produced by Streptomyces kitasatoensis. Leucomycin A1 is one of the more potent members of leucomycin complex.

Coumermycin A1

B2414-1
EUR 142.00

Coumermycin A1

B2414-5
EUR 370.00

Coumermycin A1

C219-5MG 5 mg
EUR 259.00

Enniatin A1

E036-1MG 1 mg
EUR 224.00

Enniatin A1

E036-5MG 5 mg
EUR 708.00

Annexin A1

PR27207 2 ug
EUR 388.00

Thymosin a1

H-6945.0001 1.0mg
EUR 334.00
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Thymosin a1

H-6945.0005 5.0mg
EUR 1240.00
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Thymosin a1

H-7756.0500 0.5mg
EUR 183.00
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Thymosin a1

H-7756.1000 1.0mg
EUR 306.00
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Malformin A1

GL8069-1MG 1 mg
EUR 516.00

Malformin A1

GL8069-250UG 250 ug
EUR 218.00

Obscurolide A1

GL8155-1MG 1 mg
EUR 195.00

Obscurolide A1

GL8155-5MG 5 mg
EUR 493.00

Antimycin A1

GA1794-1MG 1 mg
EUR 971.00

Bafilomycin A1

GA6363-100UG 100 ug
EUR 154.00

Bafilomycin A1

GA6363-1MG 1 mg
EUR 292.00

Tyrphostin A1

HY-16668 100mg
EUR 327.00

Epimedin A1

HY-N0258 10mg
EUR 291.00

Bafilomycin A1

HY-100558 100ug
EUR 147.00

Procyanidin A1

HY-N2344 10mM/1mL
EUR 486.00

Jionoside A1

HY-N5045 5mg
EUR 838.00

Timosaponin A1

HY-N6079 5mg
EUR 234.00

Hederacolchiside A1

HY-N6950 10mg
EUR 443.00

Leucomycin A1

L031-1MG 1 mg
EUR 318.00

Leucomycin A1

L031-5MG 5 mg
EUR 1040.00

Nystatin A1

N044-25MG 25 mg
EUR 238.00

Nystatin A1

N044-5MG 5 mg
EUR 89.00

mogroside ?A1

N2008-10 10 mg
EUR 978.00
Description: Extracted from Siraitia grosvenorii (Swingle) C. Jeffrey ex Lu et Z. Y. Zhang dried fruit;Store the product in sealed, cool and dry condition

Hederacolchiside A1

N2047-5 5 mg
EUR 978.00
Description: Extracted from Pulsatilla chinensis (Bunge) Regel.;Store the product in sealed, cool and dry condition

Epimedin A1

N2231-20 20 mg
EUR 282.00
Description: Extracted from Epimedium brevicornum Maxim. dried parts on the ground;Store the product in sealed, cool and dry condition

Quinolactacin A1

Q006-1MG 1 mg
EUR 377.00

Quinolactacin A1

Q006-5MG 5 mg
EUR 1244.00

Thymosin-a1

RP-1479 1 mg
EUR 286.00

Teleocidin A1

T075-1MG 1 mg
EUR 318.00

Teleocidin A1

T075-5MG 5 mg
EUR 1040.00

Epimedin A1

TB0109-0020 20mg
EUR 313.00

Timosaponin A1

TB0735-0010 10mg
EUR 228.00

Hederacolchiside A1

TB0828 20mg
EUR 228.00

Wulignan A1

TB0904-0025 10mg
EUR 634.00

Cylindrol A1

TBZ0220 unit Ask for price

Epiwuignan A1

TBZ0331 unit Ask for price

Jujuboside A1

TBZ0520 10mg Ask for price

Soyasaponin A1

TBZ0874 unit Ask for price

Tacacoside A1

TBZ0922 unit Ask for price

Jiocarotenoside A1

TBZ1509 unit Ask for price

Meliatoxin A1

TBZ1614 unit Ask for price

Prostaglandin A1

TBZ1839 unit Ask for price

Tjipanazole A1

TBZ1982 unit Ask for price

Bacoside A1

TBZ2509 unit Ask for price

Procyanidin A1

TBW00068 10mg
EUR 420.00

Ilexsaponin A1

TBW00081 20mg
EUR 271.00

Jionoside A1

TBW00336 10mg
EUR 484.00

Ciwujianoside A1

TBW00827 10mg Ask for price

Mouse APO-A1 (Apoliprotein A1) CLIA Kit

E-CL-M0096-192 192 tests
EUR 995.00
  • No significant cross-reactivity with analogues from other species was determined. Please, note that the data on cross-reactivity is limited. Other samples, aside from the tested ones, may be suitable to be used with this kit.
Description: This CLIA kit uses the Sandwich- CLIA principle. The micro CLIA plate provided in this kit has been pre-coated with an antibody specific to Mouse APO-A1 . Standards or samples are added to the micro CLIA plate wells and combined with the specific antibody. Then a biotinylated detection antibody specific for Mouse APO-A1 and Avidin-Horseradish Peroxidase (HRP) conjugate are added successively to each micro plate well and incubated. Free components are washed away. The substrate solution is added to each well. Only those wells that contain Mouse APO-A1 , biotinylated detection antibody and Avidin-HRP conjugate will appear fluorescence. The Relative light unit (RLU) value is measured by the Chemiluminescence immunoassay analyzer. The RLU value is positively associated with the concentration of Mouse APO-A1 . You can calculate the concentration of Mouse APO-A1 in the samples by comparing the RLU value of the samples to the standard curve.

Mouse APO-A1 (Apoliprotein A1) CLIA Kit

E-CL-M0096-96 96 tests
EUR 582.00
  • No significant cross-reactivity with analogues from other species was determined. Please, note that the data on cross-reactivity is limited. Other samples, aside from the tested ones, may be suitable to be used with this kit.
Description: This CLIA kit uses the Sandwich- CLIA principle. The micro CLIA plate provided in this kit has been pre-coated with an antibody specific to Mouse APO-A1 . Standards or samples are added to the micro CLIA plate wells and combined with the specific antibody. Then a biotinylated detection antibody specific for Mouse APO-A1 and Avidin-Horseradish Peroxidase (HRP) conjugate are added successively to each micro plate well and incubated. Free components are washed away. The substrate solution is added to each well. Only those wells that contain Mouse APO-A1 , biotinylated detection antibody and Avidin-HRP conjugate will appear fluorescence. The Relative light unit (RLU) value is measured by the Chemiluminescence immunoassay analyzer. The RLU value is positively associated with the concentration of Mouse APO-A1 . You can calculate the concentration of Mouse APO-A1 in the samples by comparing the RLU value of the samples to the standard curve.

Heterogeneous Nuclear Ribonucleoprotein A1 (hnRNP A1) Antibody

20-abx013372
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg
  • Shipped within 5-10 working days.

Rabbit apolipoprotein A1 (Apo-A1) ELISA Kit

CSB-E09804Rb-24T 1 plate of 24 wells
EUR 165.00
  • Sample volume: 50-100ul
  • Detection wavelength: 450nm
  • Assay performance time: 1 to 4 hours.
Description: Quantitativesandwich ELISA kit for measuring Rabbit apolipoprotein A1 (Apo-A1) in samples from serum, plasma, tissue homogenates. A new trial version of the kit, which allows you to test the kit in your application at a reasonable price.

Rabbit apolipoprotein A1 (Apo-A1) ELISA Kit

1-CSB-E09804Rb
  • EUR 767.00
  • EUR 5089.00
  • EUR 2699.00
  • 1 plate of 96 wells
  • 10 plates of 96 wells each
  • 5 plates of 96 wells each
  • Sample volume: 50-100ul
  • Detection wavelength: 450nm
  • Assay performance time: 1 to 4 hours.
Description: Quantitativesandwich ELISA kit for measuring Rabbit apolipoprotein A1 (Apo-A1) in samples from serum, plasma, tissue homogenates. Now available in a cost efficient pack of 5 plates of 96 wells each, conveniently packed along with the other reagents in 5 separate kits.

Monkey apolipoprotein A1 (Apo-A1) ELISA Kit

CSB-E11041Mo-24T 1 plate of 24 wells
EUR 165.00
  • Sample volume: 50-100ul
  • Detection wavelength: 450nm
  • Assay performance time: 1 to 4 hours.
Description: Quantitativesandwich ELISA kit for measuring Monkey apolipoprotein A1 (Apo-A1) in samples from serum, plasma. A new trial version of the kit, which allows you to test the kit in your application at a reasonable price.

Monkey apolipoprotein A1 (Apo-A1) ELISA Kit

1-CSB-E11041Mo
  • EUR 967.00
  • EUR 5925.00
  • EUR 3134.00
  • 1 plate of 96 wells
  • 10 plates of 96 wells each
  • 5 plates of 96 wells each
  • Sample volume: 50-100ul
  • Detection wavelength: 450nm
  • Assay performance time: 1 to 4 hours.
Description: Quantitativesandwich ELISA kit for measuring Monkey apolipoprotein A1 (Apo-A1) in samples from serum, plasma. Now available in a cost efficient pack of 5 plates of 96 wells each, conveniently packed along with the other reagents in 5 separate kits.

Human apolipoprotein A1 (Apo-A1) ELISA Kit

CSB-E08103h-24T 1 plate of 24 wells
EUR 165.00
  • Sample volume: 50-100ul
  • Detection wavelength: 450nm
  • Assay performance time: 1 to 4 hours.
Description: Quantitative sandwich ELISA kit for measuring Human apolipoprotein A1 (Apo-A1) in samples from serum, plasma, cell culture supernates, saliva, urine. A new trial version of the kit, which allows you to test the kit in your application at a reasonable price.

We identified 7 known and 4 novel variants in a total of 10 genes (ABCA4BBS2CNGA1CNGA3CNGB3MKKSNMNAT1PDE6BRPE65, and TULP1) previously known to cause inherited retinal diseases. In spite of all families being consanguineous, compound heterozygosity was detected in one family.

All homozygous pathogenic variants resided in autozygous intervals ≥2.0 Mb in size. Putative founder variants were observed in the ABCA4 (NM_000350.2:c.214G>A; p.Gly72Arg; ten families) and NMNAT1 genes (NM_022787.3:c.25G>A; p.Val9Met; two families). We conclude that geographic isolation and sociocultural tradition of intrafamilial mating in North-Western Pakistan favor both the clinical manifestation of rare “generic” variants and the prevalence of founder mutations.