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.

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

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

Phosphoprotein Enriched in Astrocytes 15 Protein

20-abx262863
  • EUR 328.00
  • EUR 6397.00
  • EUR 230.00
  • 10 ug
  • 1 mg
  • 2 µg

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

Astrocytes Mature (iPSC from Blood Cells; Male)

ASE-9322M 1 vial (1 x 10^6)
EUR 455
Description: 12 month

Astrocytes Mature (iPSC from Blood Cells; Female)

ASE-9322MF 1 vial (1 x 10^6)
EUR 455
Description: 12 month

Astrocytes Precursors (iPSC from Blood Cells; Male)

ASE-9322P 1 vial (1 x 10^6)
EUR 374
Description: 12 month

Astrocytes Precursors (iPSC from Blood Cells; Female)

ASE-9322PF 1 vial (1 x 10^6)
EUR 374
Description: 12 month

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

PEA15 Phosphoprotein Enriched in Astrocytes 15 Human Recombinant Protein

PROTQ15121 Regular: 10ug
EUR 317
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.

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

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

ASE-9322PK 1 Kit
EUR 414.5
Description: 12 month

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

ASE-9322PKF 1 Kit
EUR 414.5
Description: 12 month

Cyclin A1 (Cyclin A1) Antibody

20-abx116790
  • EUR 732.00
  • EUR 398.00
  • 150 ul
  • 50 ul

Cyclin A1 (Cyclin A1) Antibody

abx038316-100ug 100 ug
EUR 391

Cyclin A1 (Cyclin A1) Antibody

20-abx134059
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
  • 200 ul
  • 30 ul

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

Cyclin A1 (Cyclin A1) Antibody

abx232120-100ug 100 ug
EUR 481

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

Quinolactacin A1

Q006-1MG 1 mg
EUR 377

Quinolactacin A1

Q006-5MG 5 mg
EUR 1244

Nystatin A1

N044-25MG 25 mg
EUR 238

Nystatin A1

N044-5MG 5 mg
EUR 89

Leucomycin A1

L031-1MG 1 mg
EUR 318

Leucomycin A1

L031-5MG 5 mg
EUR 1040

Tyrphostin A1

HY-16668 100mg
EUR 327

Bafilomycin A1

HY-100558 100ug
EUR 147

Epimedin A1

HY-N0258 10mg
EUR 291

Timosaponin A1

HY-N6079 5mg
EUR 234

Hederacolchiside A1

HY-N6950 10mg
EUR 443

Procyanidin A1

HY-N2344 10mM/1mL
EUR 486

Jionoside A1

HY-N5045 5mg
EUR 838

Enniatin A1

E036-1MG 1 mg
EUR 224

Enniatin A1

E036-5MG 5 mg
EUR 708

Teleocidin A1

T075-1MG 1 mg
EUR 318

Teleocidin A1

T075-5MG 5 mg
EUR 1040

Antimycin A1

GA1794-1MG 1 mg
EUR 971

Bafilomycin A1

GA6363-100UG 100 ug
EUR 154

Bafilomycin A1

GA6363-1MG 1 mg
EUR 292

Annexin A1

PR27207 2 ug
EUR 388

Malformin A1

GL8069-1MG 1 mg
EUR 516

Malformin A1

GL8069-250UG 250 ug
EUR 218

Obscurolide A1

GL8155-1MG 1 mg
EUR 195

Obscurolide A1

GL8155-5MG 5 mg
EUR 493

Coumermycin A1

C219-5MG 5 mg
EUR 259

Bafilomycin A1

B038-1MG 1 mg
EUR 285

Bafilomycin A1

B038-5MG 5 mg
EUR 924

Bafilomycin A1

ADC-P-065 unit Ask for price

Bafilomycin A1

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

Antimycin A1

A127-0.5MG 0.5 mg
EUR 272

Antimycin A1

A127-2.5MG 2.5 mg
EUR 878

Leucomycin A1

C4182-1 1 mg
EUR 466
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
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.

Thymosin-a1

RP-1479 1 mg
EUR 286

mogroside ?A1

N2008-10 10 mg
EUR 978
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
Description: Extracted from Pulsatilla chinensis (Bunge) Regel.;Store the product in sealed, cool and dry condition

Epimedin A1

N2231-20 20 mg
EUR 282
Description: Extracted from Epimedium brevicornum Maxim. dried parts on the ground;Store the product in sealed, cool and dry condition

Thymosin a1

H-6945.0001 1.0mg
EUR 334
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Thymosin a1

H-6945.0005 5.0mg
EUR 1240
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Thymosin a1

H-7756.0500 0.5mg
EUR 183
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Thymosin a1

H-7756.1000 1.0mg
EUR 306
Description: Sum Formula: C129H215N33O55; CAS# [62304-98-7] net

Bafilomycin A1

A8627-.5 500 µg
EUR 168
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
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
Description: Bafilomycin A1 is a selective inhibitor of vacuolar H+ ATPases (V-ATPases) with I50 values of 4-400 nmol/mg.

A1 antibody

70R-11802 100 ug
EUR 418
Description: Rabbit polyclonal A1 antibody

Epimedin A1

TB0109-0020 20mg
EUR 313

Timosaponin A1

TB0735-0010 10mg
EUR 228

Hederacolchiside A1

TB0828 20mg
EUR 228

Wulignan A1

TB0904-0025 10mg
EUR 634

Procyanidin A1

TBW00068 10mg
EUR 420

Ilexsaponin A1

TBW00081 20mg
EUR 271

Jionoside A1

TBW00336 10mg
EUR 484

Ciwujianoside A1

TBW00827 10mg Ask for price

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

Coumermycin A1

B2414-1
EUR 142

Coumermycin A1

B2414-5
EUR 370

Bafilomycin A1

1829-250
EUR 675

Bafilomycin A1

1829-50
EUR 218

A1 Antibody

3401-100
EUR 327

A1 Antibody

3401-30T
EUR 146

Rabbit apolipoprotein A1 (Apo-A1) ELISA Kit

CSB-E09804Rb-24T 1 plate of 24 wells
EUR 165
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
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.

Pig apolipoprotein A1 (Apo-A1) ELISA Kit

CSB-E06834p-24T 1 plate of 24 wells
EUR 165
Description: Quantitativecompetitive ELISA kit for measuring Pig 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.

Pig apolipoprotein A1 (Apo-A1) ELISA Kit

1-CSB-E06834p
  • EUR 703.00
  • EUR 4843.00
  • EUR 2570.00
  • 1 plate of 96 wells
  • 10 plates of 96 wells each
  • 5 plates of 96 wells each
Description: Quantitativecompetitive ELISA kit for measuring Pig 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.

Human apolipoprotein A1 (Apo-A1) ELISA Kit

CSB-E08103h-24T 1 plate of 24 wells
EUR 165
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.

Human apolipoprotein A1 (Apo-A1) ELISA Kit

1-CSB-E08103h
  • EUR 657.00
  • EUR 4484.00
  • EUR 2384.00
  • 1 plate of 96 wells
  • 10 plates of 96 wells each
  • 5 plates of 96 wells each
Description: Quantitative sandwich ELISA kit for measuring Human apolipoprotein A1 (Apo-A1) in samples from serum, plasma, cell culture supernates, saliva, urine. 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.

Mouse apolipoprotein A1(Apo-A1) ELISA Kit

CSB-E08104m-24T 1 plate of 24 wells
EUR 165
Description: Quantitativesandwich ELISA kit for measuring Mouse apolipoprotein A1 (Apo-A1) in samples from serum, plasma, cell culture supernates, urine, tissue homogenates. A new trial version of the kit, which allows you to test the kit in your application at a reasonable price.

Mouse apolipoprotein A1(Apo-A1) ELISA Kit

1-CSB-E08104m
  • EUR 946.00
  • EUR 5782.00
  • EUR 3060.00
  • 1 plate of 96 wells
  • 10 plates of 96 wells each
  • 5 plates of 96 wells each
Description: Quantitativesandwich ELISA kit for measuring Mouse apolipoprotein A1(Apo-A1) in samples from serum, plasma, cell culture supernates, urine, 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.

Rat apolipoprotein A1 (Apo-A1) ELISA Kit

CSB-E08105r-24T 1 plate of 24 wells
EUR 165
Description: Quantitativesandwich ELISA kit for measuring Rat apolipoprotein A1 (Apo-A1) in samples from serum, plasma, bronchoalveolarlavagefluid, tissue homogenates. A new trial version of the kit, which allows you to test the kit in your application at a reasonable price.

Rat apolipoprotein A1 (Apo-A1) ELISA Kit

1-CSB-E08105r
  • 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
Description: Quantitativesandwich ELISA kit for measuring Rat apolipoprotein A1 (Apo-A1) in samples from serum, plasma, bronchoalveolarlavagefluid, 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.

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.