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Genetic Evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal

Next generation sequencing reveals a novel pathogenic variant in the ATMgene

 

Introduction: Ataxia telangiectasia (A-T) is a uncommon autosomal recessive multisystemic illness. Sufferers with the A-T syndrome current a broad spectrum of illness phenotypes. The ATM (ataxia telangiectasia mutated) gene, the one causative gene for A-T.

 

Methodology: A affected person of Persian origin presenting with typical A-T was referred to our genetics middle for specialised genetic counseling and testing. Focused next-generation sequencing (NGS) was utilized. Sanger sequencing was used to substantiate the candidate variant. Modeling was carried out utilizing the SWISS-MODEL server.Outcomes: A homozygous stop-gain variant c.829G > T (p.E277*) was discovered within the ATM gene. This variant was confirmed by Sanger sequencing and modeling of native construction and truncated construction was carried out.

 

Conclusion: Thus far, only a few pathogenic variants of the ATM gene have been reported from the Iranian inhabitants. The discovering has implications in molecular diagnostic for A-T in Iran.

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Neoliquiritin

HY-N2123 1mg
EUR 204

Isosakuranetin

HY-N2131 5mg
EUR 187

Flavokawain B

HY-N2132 5mg
EUR 142

Mirificin

HY-N2134 1mg
EUR 139

Vicenin 2

HY-N2165 10mg
EUR 509

Acetylshengmanol Arabinoside

HY-N2170 5mg
EUR 640

Sibiricose A6

HY-N2172 20mg
EUR 640

Forsythoside E

HY-N2173 10mg
EUR 443

Cixiophiopogon A

HY-N2175 5mg
EUR 705

Saikosaponin F

HY-N2178 1mg
EUR 243

Hypaphorine

HY-N2179 10mg
EUR 705

Pinoresinol dimethyl ether

HY-N2180 1mg
EUR 108

Acetylshikonin

HY-N2181 10mg
EUR 243

Episyringaresinol 4'-O-β-D-glncopyranoside

HY-N2182 10mg
EUR 838

Baimaside

HY-N2183 10mg
EUR 320

(5R,6E)-5-Hydroxy-1,7-diphenyl-6-hepten-3-one

HY-N2185 10mg
EUR 574

Deoxyshikonin

HY-N2187 5mg
EUR 342

Hederagenin 28-O-beta-D-glucopyranosyl ester

HY-N2190 5mg
EUR 1034

Ecliptasaponin D

HY-N2191 10mg
EUR 359

Hirsutine

HY-N2193 5mg
EUR 1362

Bergamottin

HY-N2194 25mg
EUR 497

Hirsuteine

HY-N2197 1mg
EUR 443

Podocarpusflavone A

HY-N2198 10mg
EUR 436

Sotetsuflavone

HY-N2199 5mg
EUR 807

Pseudoginsenoside RT1

HY-N2201 1mg
EUR 204

Vitexin2''-​O-​p-​coumarate

HY-N2203 5mg
EUR 1034

Esculentoside H

HY-N2205 10mg
EUR 640

rel-(8R,8'R)-Dimethyl-(7S,7'R)-bis(3,4-methylenedioxyphenyl)tetrahydro-furan

HY-N2207 5mg
EUR 1034

4-Hydroxylonchocarpin

HY-N2208 10mg
EUR 640

Angeloylgomisin H

HY-N2209 1mg
EUR 153

5,7,4'-Trihydroxy-8-Methylflavanone

HY-N2210 5mg
EUR 1034

Picfeltarraenin IB

HY-N2211 5mg
EUR 142

7-O-Methylaloeresin A

HY-N2214 1mg
EUR 379

Aloeresin D

HY-N2215 5mg
EUR 574

Rotundic acid

HY-N2217 10mg
EUR 705

Jionoside B1

HY-N2218 5mg
EUR 509

6-Formyl-isoophiopogonanone A

HY-N2220 5mg
EUR 838

Guaijaverin

HY-N2224 5mg
EUR 320

(-)-Epigallocatechin-3-(3''-O-methyl) gallate

HY-N2228 1mg
EUR 597

Rhapontigenin

HY-N2229 5mg
EUR 186

N-p-trans-Coumaroyltyramine

HY-N2230 1mg
EUR 179

Ganolactone B

HY-N2234 5mg
EUR 1034

Piceatannol 3'-O-glucoside

HY-N2237 5mg
EUR 257

Dipsanoside A

HY-N2238 1mg
EUR 400

6-Methoxykaempferol 3-O-Rutinoside

HY-N2239 1mg
EUR 487

Eupalinolide K

HY-N2240 5mg
EUR 1231

Hosenkoside F

HY-N2241 5mg
EUR 452

Hosenkoside G

HY-N2242 1mg
EUR 313

Hosenkoside K

HY-N2243 5mg
EUR 268

Hosenkoside M

HY-N2244 5mg
EUR 452

Gomisin H

HY-N2246 5mg
EUR 705

Hosenkoside A

HY-N2249 5mg
EUR 268

Hosenkoside B

HY-N2250 5mg
EUR 326

Crebanine

HY-N2255 20mg
EUR 443

(-​)​-​Salutaridine

HY-N2256 20mg
EUR 379

Curcumenol

HY-N2259 25mg
EUR 383

(-)-Cephaeline (dihydrochloride)

HY-N2260 5mg
EUR 340

Ipecoside

HY-N2261 1mg
EUR 179

8-Geranyloxypsoralen

HY-N2262 5mg
EUR 512

Skimmin

HY-N2263 10mg
EUR 337

Gymnemagenin

HY-N2268 5mg
EUR 705

Angeloylgomisin O

HY-N2271 5mg
EUR 838

23-Hydroxylongispinogenin

HY-N2274 1mg
EUR 313

21-​O-​Tigloylgymnemagenin

HY-N2275 5mg
EUR 1034

Kurarinone

HY-N2279 10mg
EUR 443

Deltonin

HY-N2283 5mg
EUR 486

Sophoflavescenol

HY-N2284 5mg
EUR 960

Fabiatrin

HY-N2285 10mg
EUR 705

2''-O-Rhamnosylicariside II

HY-N2289 5mg
EUR 337

Baohuoside VII

HY-N2290 5mg
EUR 1034

Rebaudioside G

HY-N2291 1mg
EUR 379

6"-O-Apiosyl-5-O-Methylvisammioside

HY-N2295 10mM/1mL
EUR 475

(2R,3R)-3,7-Dihydroxy-2-(4-hydroxyphenyl)-5-methoxy-8-(3-methylbut-2-en-1-yl)chroman-4-one

HY-N2296 5mg
EUR 1034

Camellianin A

HY-N2298 1mg
EUR 268

Kuwanon A

HY-N2300 25mg
EUR 1345

Pleuromutilin

HY-N2301 100mg
EUR 173

Fucoxanthin

HY-N2302 50mg
EUR 725

Aclacinomycin A hydrochloride

HY-N2306A 10mg
EUR 601

Kainic acid

HY-N2309 10mM/1mL
EUR 238

Ibotenic acid

HY-N2311 10mg
EUR 441

Mogrol

HY-N2312 1mg
EUR 187

Podocarpic acid

HY-N2318 10mg
EUR 119

Dihydroergocristine (mesylate)

HY-N2319 10mM/1mL
EUR 345

4'-Demethylpodophyllotoxin

HY-N2323 10mg
EUR 142

D-(+)-Cellobiose

HY-N2325 10mM/1mL
EUR 113

Oleamide

HY-N2327 10mg
EUR 153

Piperlongumine

HY-N2329 10mg
EUR 108

Methyllycaconitine citrate

HY-N2332A 50mg
EUR 612

Glycochenodeoxycholic acid

HY-N2334 10mg
EUR 119

Glycochenodeoxycholic acid (sodium salt)

HY-N2334A 10mM/1mL
EUR 113

Coumestrol

HY-N2335 10mg
EUR 715

Rosmarinic acid (racemate)

HY-N2336 100mg
EUR 173

11beta-Hydroxyprogesterone

HY-N2337 50mg
EUR 201

Cholesterol myristate

HY-N2338 250mg
EUR 133

Cholesteryl behenate

HY-N2339 10mg
EUR 147

D-(+)-Melezitose

HY-N2340 10mM/1mL
EUR 126

Palmitelaidic Acid

HY-N2341 10mg
EUR 119

Procyanidin C1

HY-N2342 10mg
EUR 681

Familial dilated cardiomyopathy brought on by a novel variant within the Lamin A/C gene: a case report

Background: Familial dilated cardiomyopathy (FDCM) is mostly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been recognized to be related to DCM, conductive system problems, kind 2 Emery-Dreifuss muscular dystrophy and a number of other different problems. Right here, we reported a novel variant within the LMNA gene that is likely to be associated to FDCM.

 

Case presentation: A 30-year-old younger man was hospitalized for chest tightness, excessive fatigue, palpitation and impaired exercise tolerance. He had scientific traits together with cardiac dilatation, atrial tachyarrhythmia, extreme conductive system problems, and dyskinesia of each higher limbs and the neck. Genetic sequence evaluation indicated that the affected person carried a novel c.1325 T>C heterozygous LMNA gene variant. Catheter ablation and cardiac resynchronization remedy with pacing perform (CRT-P) have been carried out to deal with the arrhythmia.

 

Conclusion: The variant c.1325 T>C is a novel variant within the LMNA gene that has not been beforehand reported. Younger sufferers with DCM, conductive system problems and skeletal myopathy ought to be alert to the potential for LMNA gene variant. Cardiac resynchronization remedy (CRT) could also be an affordable selection for affected person carrying a LMNA gene variant with third-degree atrioventricular block even when the left ventricular ejection fraction is preserved with the intention to stop the deterioration of cardiac perform brought on by proper ventricular pacing dependency.

 

Genetic evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal: a section II of Nepal pediatric ocular illnesses research

 

Background: Genetic eye illnesses represent a big and heterogeneous group of childhood ocular morbidity. Particular person illnesses could trigger a number of structural anomalies and developmental options. Nepal Pediatric Ocular Illness Research (NPODS) was a population-based epidemiological research carried out throughout three ecological areas of Nepal to find out the prevalence and etiology of childhood ocular morbidity and blindness. In Part II of this research, genetic evaluation was carried out for kids who have been discovered to have congenital ocular anomalies.

 

Methodology: It was a cross sectional descriptive research. A complete of 10,270 youngsters throughout three totally different ecological areas in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of kids with ocular abnormalities, 30 have been considered congenital in nature. Focused genetic evaluation, together with genotyping for genes particular to presenting phenotype, was carried out for 25 youngsters utilizing serum samples.

 

Outcomes: Out of 25 youngsters, 18 had significant genetic outcomes. Evaluation revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in a single participant amongst 10 with congenital ptosis and one other missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in a single participant amongst Three with microphthalmos.

 

Conclusion: The research is first of its sort from Nepal and mutant genes have been distinctive to Nepalese Inhabitants. Additional evaluation of genetic components is essential to higher perceive genetic affiliation with ocular illnesses and situations. This helps additional in genetic counseling and doubtless gene remedy to forestall blindness from these situations.

 

Doxorubicin hydrochloride

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Doxorubicin hydrochloride

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Doxorubicin hydrochloride

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Doxorubicin hydrochloride

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Doxorubicin Hydrochloride

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Doxorubicin hydrochloride USP

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Doxorubicin Hydrochloride (Autophagy inducer)

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Erlotinib, Hydrochloride Salt

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Doxorubicin

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Doxorubicin

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Doxorubicin

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Doxorubicin

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Doxorubicin

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Doxorubicin

A3966-10 10 mg
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Doxorubicin

A3966-100 100 mg
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Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.

Doxorubicin

A3966-25 25 mg
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Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.

Doxorubicin

A3966-5.1 10 mM (in 1mL DMSO)
EUR 131
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.

Doxorubicin

A3966-S Evaluation Sample
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Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.

Erlotinib, Hydrochloride Salt, >99%

BC026-101 1g
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Erlotinib, Hydrochloride Salt, >99%

BC026-102 2g
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Erlotinib, Hydrochloride Salt, >99%

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Adriamycin (Doxorubicin)

E1KS1208 10mg
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Doxorubicin HCl

20-abx184016
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Doxorubicin 10mM

TG4120 0.25ml
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17-DMAG, Hydrochloride Salt, >98%

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17-DMAG, Hydrochloride Salt, >98%

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OSU-03012, Hydrochloride Salt, >98%

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OSU-03012, Hydrochloride Salt, >98%

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Doxorubicin HCl, 100mg

R2531-100mg
EUR 1300

Doxorubicin HCl, 10mg

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EUR 197

Doxorubicin (Adriamycin) HCl

A1832-10 10 mg
EUR 125
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.

Doxorubicin (Adriamycin) HCl

A1832-25 25 mg
EUR 189
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.

Doxorubicin (Adriamycin) HCl

A1832-5.1 10 mM (in 1mL DMSO)
EUR 113
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.

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Anti-CD22-DIBO-doxorubicin ADC

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Anti-ERBB2 (Trastuzumab)-NGM-doxorubicin ADC

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Anti-EGFR (cetuximab)-SMCC-Doxorubicin ADC

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Anti-EpCAM (MOC31)-hydrazone-Doxorubicin ADC

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Anti-FUT3 (clone cBR96)-hydrazone-doxorubicin ADC

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Anti-CD70 (clone h1F6)-β-glucuronide-doxorubicin ADC

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Bile salt

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Anti-TNFRSF8 (cCA10)-β-glucuronide-doxorubicin propyloxazoline (DPO) ADC

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Human HeLa (Cervix Adenocarcinoma) Cell Nuclear Extract - Doxorubicin Stimulated

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Human HeLa (Cervix Adenocarcinoma) Whole Cell Lysate - Doxorubicin Stimulated

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Sarafloxacin Hydrochloride

S003-25G 25 g
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Sarafloxacin Hydrochloride

S003-5G 5 g
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Sancycline hydrochloride

S076-10MG 10 mg
EUR 128

Sancycline hydrochloride

S076-50MG 50 mg
EUR 440

Moxifloxacin Hydrochloride

M033-100MG 100 mg
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Moxifloxacin Hydrochloride

M033-500MG 500 mg
EUR 424

Metformin hydrochloride

M087-1G 1 g
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Metformin hydrochloride

M087-5G 5 g
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Naftifine hydrochloride

N047-500MG 500 mg
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Naftifine hydrochloride

N047-50MG 50 mg
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Oxytetracycline Hydrochloride

O004-100G 100 g
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Oxytetracycline Hydrochloride

O004-10G 10 g
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Oxytetracycline Hydrochloride

O004-50G 50 g
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Ofloxacin Hydrochloride

O039-10G 10g
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Lomefloxacin hydrochloride

L005-1G 1 g
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Lomefloxacin hydrochloride

L005-5G 5 g
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Methacycline hydrochloride

M003-100MG 100 mg
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Methacycline hydrochloride

M003-1G 1 g
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Minocycline hydrochloride

M008-1G 1 g
EUR 347

Minocycline hydrochloride

M008-500MG 500 mg
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Mitoxantrone hydrochloride

M010-50MG 50 mg
EUR 129

Pirlimycin Hydrochloride

P088-25MG 25 mg
EUR 670

Pirlimycin Hydrochloride

P088-5MG 5 mg
EUR 213

Ofloxacin Hydrochloride

O039-1G 1g
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Tasidotin hydrochloride

HY-13760 5mg
EUR 2198

Topotecan (Hydrochloride)

HY-13768A 10mg
EUR 119

Hydroxyfasudil (hydrochloride)

HY-13911A 10mM/1mL
EUR 168

Sevelamer hydrochloride

HY-13995A 100mg
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Rimonabant (Hydrochloride)

HY-14137 100mg
EUR 463

Cinaciguat (hydrochloride)

HY-14181A 50mg
EUR 1290

Vernakalant (Hydrochloride)

HY-14183 5mg
EUR 366

Amiodarone (hydrochloride)

HY-14188 500mg
EUR 108

Clorgyline hydrochloride

HY-14197A 100mg
EUR 380

Siramesine (hydrochloride)

HY-14221A 50mg
EUR 1290

Fadrozole hydrochloride

HY-14247 100mg
EUR 614

Olprinone (Hydrochloride)

HY-14254 50mg
EUR 452

Vilazodone (Hydrochloride)

HY-14261 10mg
EUR 119

Tebanicline (hydrochloride)

HY-14316A 100mg
EUR 1069

Idalopirdine Hydrochloride

HY-14338A 50mg
EUR 1297

Haloperidol (hydrochloride)

HY-14538A 500mg
EUR 160

Ziprasidone (hydrochloride)

HY-14542A 50mg
EUR 277

Amisulpride (hydrochloride)

HY-14545A 100mg
EUR 160

Talnetant (hydrochloride)

HY-14552A 10mg
EUR 236

Idazoxan (hydrochloride)

HY-14561A 50mg
EUR 136

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