The clinical effect of homozygous ABCA4 alleles in 18 patients.

allelebio

OBJECTIVE
To illustrate the phenotypic presentation of a group of individuals with the homozygous variant ABCA4 related diseases.


METHOD
retrospective case series.

METHOD
Eighteen of the affected individuals from 13 families ascertained from the total cohort of 214 families with retinal diseases associated ABCA4 presenting to a single center.


METHOD
A detailed history was obtained, and color fundus photography, autofluorescence (AF) imaging, optical coherence tomography (OCT), and electrophysiologic assessment is done. Phenotype by ophthalmoscopy, AF, and electrophysiology are assigned using the characteristics previously reported. ABCA4 mutation detection is done using microarray ABCR400 (Asper Biotech, Tartu, Estonia) and high-throughput DNA sequencing, with direct sequencing used to assess segregation.


METHOD
Detailed clinical, electrophysiological and molecular genetic findings.


RESULTS
Eleven ABCA4 homozygous alleles related diseases were identified, including one shift frame, two stops, first intronic splice-site variants lead changes, two missense variants of the complex, and 5 of the missense variants: p.Glu905fsX916, p.Arg1300X, p.Gln2220X, c 0, 4253 + 4 C> T, p.Leu541Pro and p.Ala1038Val (homozygosity for allele complex), p.Val931Met and p.Arg1705Gln (complex alleles), p.Arg212Cys, p.Cys1488Arg, p.Arg1640Trp, p.Gly1961Glu, and p.Leu2027Phe. Eight of the 11 allele homozygotes have not been reported previously. Six of 7 patients with homozygous null allele had early-onset (<10 years) disease, with all seven had severe phenotype.

Two patients with homozygous missense variant (p.Leu541Pro and p.Ala1038Val [complex], and p.Arg1640Trp) served with a severe phenotype. Three patients with homozygous p.Gly1961Glu have adult-onset disease and mild phenotype. One patient with homozygous p.Leu2027Phe show fovea spared and preserved visual acuity.


CONCLUSION
Phenotype is represented in patients identified as homozygous for the variant considered ABCA4 related disease provides insight into the effects of individual alleles. Null alleles have functional effects are severe, and certain missense variant similar to nulls, suggesting a complete retraction of protein function. Common alleles were identified, p.Gly1961Glu and p. Leu2027Phe, both have structural and functional effects of light on the retina adults; the latter is associated with a relatively fixed photoreceptor architecture and function in the fovea.

 The clinical effect of homozygous ABCA4 alleles in 18 patients.
The clinical effect of homozygous ABCA4 alleles in 18 patients.

whole genome association studies for multigenic diseases: ethical dilemmas arising from commercialization – the case of genetic testing for autism.

This paper discusses some of the ethical issues that arise from whole genome association studies for multigenic diseases, with a focus on cases of autism. Events that occurred after the announcement of a genetic test for autism in France (2005-2009) described for example ethical controversy that can arise when a genetic test for autism is applied prematurely and inappropriately promoted by biotech companies.

PPQ-102

HY-14179 100mg
EUR 1221

BGB-102

HY-15732 10mg
EUR 6041

EL-102

HY-16187 10mM/1mL
EUR 376

MM-102

B1582-2 2 mg
EUR 128
Description: MM-102 is an antagonist of MLL1 with IC50 value of 2.4nM [1].Mixed lineage leukemia 1 (MLL1) is a histone H3 lysine 4 (H3K4) methyltransferase.

MM-102

B1582-20 20 mg
EUR 593
Description: MM-102 is an antagonist of MLL1 with IC50 value of 2.4nM [1].Mixed lineage leukemia 1 (MLL1) is a histone H3 lysine 4 (H3K4) methyltransferase.

PPQ-102

B3504-10 10 mg
EUR 242

PPQ-102

B3504-5 5 mg
EUR 151

PPQ-102

B3504-50 50 mg
EUR 863

PM 102

B5517-1 1 mg
EUR 601

MM-102

B2364-25
EUR 588

MM-102

B2364-5
EUR 185

p38 protein

E20-80078 20ug
EUR 408

p38 protein

E20-80079 20ug
EUR 408

p38 Antibody

20-abx133223
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

20-abx007541
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

abx236076-100ug 100 ug
EUR 481

p38 Antibody

20-abx141038
  • EUR 356.00
  • EUR 537.00
  • EUR 217.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Antibody

35478-100ul 100ul
EUR 390

p38 Antibody

48644-100ul 100ul
EUR 333

p38 Antibody

48644-50ul 50ul
EUR 239

anti-p38

YF-PA11120 50 ug
EUR 363
Description: Mouse polyclonal to p38

anti-p38

YF-PA11121 100 ug
EUR 403
Description: Rabbit polyclonal to p38

anti-p38

YF-PA23519 50 ul
EUR 334
Description: Mouse polyclonal to p38

anti-p38

YF-PA23520 50 ul
EUR 334
Description: Mouse polyclonal to p38

anti-p38

YF-PA23521 50 ul
EUR 334
Description: Mouse polyclonal to p38

p38 antibody

70R-51505 100 ul
EUR 268
Description: Purified Polyclonal p38 antibody

p38 antibody

70R-51506 100 ul
EUR 287
Description: Purified Polyclonal p38 antibody

LB (Lennox)

102 500 g
EUR 101

BP-1-102

HY-100493 100mg
EUR 1345

MM-102 (TFA)

HY-12220A 10mM/1mL
EUR 263

SB-203580 p38 MAPK(p38 MAP kinase) Inhibitor

E1B1863 1mg
EUR 161

p38 Polyclonal Antibody

ES4837-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA

p38 Polyclonal Antibody

ES4837-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA

p38 Polyclonal Antibody

ES4838-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA

p38 Polyclonal Antibody

ES4838-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA

p38 Polyclonal Antibody

ES8347-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat/Chicken. This antibody is tested and validated for WB, ELISA, WB, ELISA

p38 Polyclonal Antibody

ES8347-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat/Chicken. This antibody is tested and validated for WB, ELISA, WB, ELISA

p38 Polyclonal Antibody

ES3111-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA

p38 Polyclonal Antibody

ES3112-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA

p38 Polyclonal Antibody

ES3111-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, WB, ELISA

p38 Polyclonal Antibody

ES3112-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against p38 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA

p38 (pY323) Antibody

20-abx133058
  • EUR 314.00
  • EUR 467.00
  • EUR 203.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 (pY182) Antibody

20-abx134951
  • EUR 384.00
  • EUR 606.00
  • EUR 230.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 Polyclonal Antibody

ABP53838-003ml 0.03ml
EUR 158
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180

p38 Polyclonal Antibody

ABP53838-01ml 0.1ml
EUR 289
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180

p38 Polyclonal Antibody

ABP53838-02ml 0.2ml
EUR 414
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180

p38 Polyclonal Antibody

ABP53839-003ml 0.03ml
EUR 158
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IF, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y182

p38 Polyclonal Antibody

ABP53839-01ml 0.1ml
EUR 289
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IF, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y182

p38 Polyclonal Antibody

ABP53839-02ml 0.2ml
EUR 414
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IF, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y182

Anti-p38 Antibody

A00176 100ul
EUR 397
Description: Rabbit Polyclonal Antibody for p38 Antibody (MAPK14) detection.tested for WB in Human, Mouse, Rat.

p38 Polyclonal Antibody

ABP52112-003ml 0.03ml
EUR 158
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180/Y182

p38 Polyclonal Antibody

ABP52112-01ml 0.1ml
EUR 289
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180/Y182

p38 Polyclonal Antibody

ABP52112-02ml 0.2ml
EUR 414
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of T180/Y182

p38 Polyclonal Antibody

ABP52113-003ml 0.03ml
EUR 158
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y323

p38 Polyclonal Antibody

ABP52113-01ml 0.1ml
EUR 289
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y323

p38 Polyclonal Antibody

ABP52113-02ml 0.2ml
EUR 414
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat. This p38 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human p38 around the non-phosphorylation site of Y323

p38 Blocking Peptide

20-abx061736
  • EUR 258.00
  • EUR 384.00
  • 1 mg
  • 5 mg

p38 Blocking Peptide

20-abx062080
  • EUR 272.00
  • EUR 411.00
  • 1 mg
  • 5 mg

p38 (pT180) Antibody

20-abx009863
  • EUR 314.00
  • EUR 467.00
  • EUR 203.00
  • 100 ul
  • 200 ul
  • 30 ul

p38 MAPK Antibody

20-abx012798
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

p38 MAPK Antibody

20-abx012875
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

p38 Polyclonal Antibody

ABP57354-003ml 0.03ml
EUR 158
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat, Chicken. This p38 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human p38

p38 Polyclonal Antibody

ABP57354-01ml 0.1ml
EUR 289
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat, Chicken. This p38 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human p38

p38 Polyclonal Antibody

ABP57354-02ml 0.2ml
EUR 414
Description: A polyclonal antibody for detection of p38 from Human, Mouse, Rat, Chicken. This p38 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human p38

p38 MAPK Antibody

abx236077-100ug 100 ug
EUR 481

p38 Blocking Peptide

20-abx161932
  • EUR 272.00
  • EUR 411.00
  • 1 mg
  • 5 mg

Anti-p38 antibody

STJ94876 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

Anti-p38 antibody

STJ94877 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

Anti-p38 antibody

STJ94878 200 µl
EUR 197
Description: p38 is a protein encoded by the MAPK14 gene which is approximately 41,2 kDa. p38 is localised to the cytoplasm and nucleus. It is involved in activated TLR4 signalling, the IL-2 pathway, toll-like receptor signalling pathways, the VEGF signalling pathway and 4-1BB pathway. This protein falls under the MAP kinase family. It acts as an integration point for multiple biochemical signals, and is involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. p38 is expressed in the brain, heart, placenta, pancreas and skeletal muscle. Mutations in the MAPK14 gene may result in patellar tendinitis and lumbosacral lipoma. STJ94878 was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. This polyclonal antibody detects endogenous levels of p38 protein.

Anti-p38 antibody

STJ94879 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

Anti-P38 antibody

STJ98898 200 µl
EUR 197
Description: Mouse monoclonal to P38.

Anti-P38 antibody

STJ98899 200 µl
EUR 197
Description: Mouse monoclonal to P38.

Anti-p38 antibody

STJ97615 200 µl
EUR 197
Description: Rabbit polyclonal to p38.

p38 Polyclonal Antibody

41305-100ul 100ul
EUR 252

p38 Polyclonal Antibody

41305-50ul 50ul
EUR 187

p38 Polyclonal Antibody

41306-100ul 100ul
EUR 252

p38 Polyclonal Antibody

41306-50ul 50ul
EUR 187

p38 alpha-MAPK14

RA15053 100 ug
EUR 526

anti- p38 antibody

FNab06076 100µg
EUR 505.25
Description: Antibody raised against p38

p38 MAPK Antibody

49379-100ul 100ul
EUR 333

p38 MAPK Antibody

49379-50ul 50ul
EUR 239

p38 MAPK Antibody

AF6455 200ul
EUR 304
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK.

p38 MAPK Antibody

AF6456 200ul
EUR 304
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK.

p38 MAPK Antibody

AF6457 200ul
EUR 304
Description: p38 MAPK Antibody detects endogenous levels of total p38 MAPK.

anti-p38 MAPK

LF-PA0160 100 ul
EUR 334
Description: Rabbit polyclonal to p38 MAPK

Anti-p38 alpha

DB-1039 100 tests
EUR 474

Anti-p38 beta

DB-1040 100 tests
EUR 474

Anti-p38 gamma

DB-1041 100 tests
EUR 474

Anti-p38 delta

DB-1042 100 tests
EUR 474

Anti-p38-a

DB-161-0.05 50 μl
EUR 269

Anti-p38-a

DB-161-0.1 100 μl
EUR 422

Anti-p38-b

DB-162-0.05 50 μl
EUR 269

Anti-p38-b

DB-162-0.1 100 μl
EUR 422

Anti-p38-g

DB-163-0.05 50 μl
EUR 269

Anti-p38-g

DB-163-0.1 100 μl
EUR 422

Anti-p38-d

DB-164-0.05 50 μl
EUR 269

The authors suggest that the genetic tests assess one or several genes involved in the disorder multigenic only be useful if: (1) genetic association found in scientific studies to be statistically convincing, reproducible and also applies to populations of individuals deemed to belong (validity scientific); (2) The relative risk is given by the ‘high risk’ alleles should be high enough to be significant to the patient (significant impact); (3) the use of the test should lead to some improvement of outcomes for patients, the results of treatment adjusted if available, or at least from lifestyle adjustments (or destiny) requested by the new knowledge generated (clinical utility).

Leave a Reply

Your email address will not be published.