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Search life-sciences literature (45,104,145 articles, preprints and more)

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Quantifying the impact of key factors on the carbon mitigation potential of managed temperate forests.
Gregor K, Krause A, Reyer CPO, Knoke T, Meyer BF, Suvanto S, Rammig A
Carbon Balance Manag, 19(1):10, 02 Mar 2024
Cited by: 0 articles | PMID: 38430356 | PMCID: PMC11342660
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Circulating Tumour DNA Detection By The Urine-Informed Analysis Of Archival Serum Samples From Muscle-Invasive Bladder Cancer Patients.
BinHumaid FS, Goel A, Gordon NS, Abbotts B, Cheng KK, Zeegers MP, James ND, Altaweel WM, Seyam RM, Meyer BF, Arnold R, Ward DG, Bryan RT
Eur Urol, 85(5):508-509, 01 Feb 2024
Cited by: 0 articles | PMID: 38302315
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Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.
Al-Mutairy EA, Al Qattan S, Khalid M, Al-Enazi AA, Al-Saif MM, Imtiaz F, Ramzan K, Raveendran V, Alaiya A, Meyer BF, Atamas SP, Collison KS, Khabar KS, Hasday JD, Al-Mohanna F
Front Cell Dev Biol, 11:1282868, 30 Nov 2023
Cited by: 0 articles | PMID: 38099297 | PMCID: PMC10720433
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Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari A, Guzmán-Vega FJ, Meyer BF, Arold ST
Pediatr Neurol, 151:68-72, 19 Oct 2023
Cited by: 0 articles | PMID: 38113697
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β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in Braf^V600E-driven thyroid cancer cells.
Zou M, Al-Yahya S, Al-Alwan M, BinEssa HA, Khabar KSA, Almohanna F, Assiri AM, Altaweel A, Qattan A, Meyer BF, Alzahrani AS, Shi Y
Front Immunol, 14:1171816, 06 Jul 2023
Cited by: 0 articles | PMID: 37483610 | PMCID: PMC10358762
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The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D, Goljan E, Rapid Exome Consortium, Assoum M, Albreacan M, Binhumaid F, Subhani S, Boureggah A, Hashem M, Abdulwahab F, Abuyousef O, Temsah MH, Alsohime F, Kelaher J, Abouelhoda M, Meyer BF, Alkuraya FS
Genome Med, 15(1):44, 21 Jun 2023
Cited by: 9 articles | PMID: 37344829
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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.
Goljan E, Abouelhoda M, ElKalioby MM, Jabaan A, Alghithi N, Meyer BF, Monies D
PLoS One, 17(1):e0263137, 28 Jan 2022
Cited by: 9 articles | PMID: 35089958 | PMCID: PMC8797234
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Higher susceptibility of beech to drought in comparison to oak
Meyer BF, Buras A, Rammig A, Zang CS
Dendrochronologia., 64:Not Available, 01 Dec 2021
Cited by: 0 articles | AGR: IND607163673
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Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N, Zou M, BinEssa HA, Abdi S, Al-Enezi AF, Meyer BF, Alzahrani AS, Shi Y
J Clin Endocrinol Metab, 107(3):e1263-e1276, 01 Feb 2022
Cited by: 3 articles | PMID: 34632506
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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Abouelhoda M, Mohty D, Alayary I, Meyer BF, Arold ST, Fadel BM, Monies D
Hum Genomics, 15(1):52, 11 Aug 2021
Cited by: 7 articles | PMID: 34380564 | PMCID: PMC8359098
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β-Catenin Attenuation Inhibits Tumor Growth and Promotes Differentiation in a BRAF^V600E-Driven Thyroid Cancer Animal Model.
Zou M, BinEssa HA, Al-Malki YH, Al-Yahya S, Al-Alwan M, Al-Jammaz I, Khabar KSA, Almohanna F, Assiri AM, Assiri AM, Meyer BF, Alzahrani AS, Al-Mohanna FA, Shi Y
Mol Cancer Ther, 20(9):1603-1613, 17 Jun 2021
Cited by: 3 articles | PMID: 34224366
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Data Mining for the Identification of Known and Candidate Transthyretin Amyloidosis Variants in the Saudi Population
Abouelhoda M, Mohty D, Alayary I, Meyer BF, Arold ST, Fadel BM, Monies D
Research Square, 08 Apr 2021
Cited by: 0 articles | PPR: PPR309610
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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, [...] Kaya N
Brain, 144(3):769-780, 01 Apr 2021
Cited by: 22 articles | PMID: 33764426 | PMCID: PMC8041041
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Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Al-Zayed Z, Al-Rijjal RA, Al-Ghofaili L, BinEssa HA, Pant R, Alrabiah A, Al-Hussainan T, Zou M, Meyer BF, Shi Y
Orphanet J Rare Dis, 16(1):100, 25 Feb 2021
Cited by: 7 articles | PMID: 33632255 | PMCID: PMC7905910
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Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.
Zou M, Guven A, BinEssa HA, Al-Rijjal RA, Meyer BF, Alzahrani AS, Shi Y
Front Genet, 11:607517, 27 Nov 2020
Cited by: 3 articles | PMID: 33329754 | PMCID: PMC7729158
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Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.
Cebeci AN, Zou M, BinEssa HA, Alzahrani AS, Al-Rijjal RA, Al-Enezi AF, Al-Mohanna FA, Cavalier E, Meyer BF, Shi Y
J Clin Endocrinol Metab, 105(6):dgz260, 01 Jun 2020
Cited by: 6 articles | PMID: 31821448
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, [...] Alkuraya FS
Am J Hum Genet, 105(4):879, 01 Oct 2019
Cited by: 20 articles | PMID: 31585110 | PMCID: PMC6817532
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NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION.
Demir K, Zou M, Al-Rijjal RA, BinEssa H, Acar S, Durmaz E, Çatlı G, Al-Enezi AF, Alzahrani AS, Meyer BF, Shi Y
Endocr Pract, 26(1):72-81, 26 Sep 2019
Cited by: 3 articles | PMID: 31557081
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Associations of autozygosity with a broad range of human phenotypes.
Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, Zhang W, Medina-Gomez C, Karlsson R, Bao Y, [...] Wilson JF
Nat Commun, 10(1):4957, 31 Oct 2019
Cited by: 65 articles | PMID: 31673082 | PMCID: PMC6823371
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An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.
Al-Mutairy EA, Imtiaz FA, Khalid M, Al Qattan S, Saleh S, Mahmoud LM, Al-Saif MM, Al-Haj L, Al-Enazi A, AlJebreen AM, Mohammed SF, Mobeireek AF, Alkattan K, Chisti MA, Luzina IG, Al-Owain M, Weheba I, Abdelsayed AM, Ramzan K, [...] Al-Mohanna F
Eur Respir J, 54(1):1802041, 18 Jul 2019
Cited by: 9 articles | PMID: 31073086 | PMCID: PMC6637284
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Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer.
Gray V, Briggs S, Palles C, Jaeger E, Iveson T, Kerr R, Saunders MP, Paul J, Harkin A, McQueen J, Summers MG, Johnstone E, Wang H, Gatcombe L, Maughan TS, Kaplan R, Escott-Price V, Al-Tassan NA, Meyer BF, [...] Church DN
J Natl Cancer Inst, 111(8):828-836, 01 Aug 2019
Cited by: 8 articles | PMID: 30649440 | PMCID: PMC6695319
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A novel KIT mutation in a family with expanded syndrome of piebaldism.
Hamadah I, Chisti M, Haider M, Al Dosssari H, Alhumaidan R, Meyer BF, Wakil SM
JAAD Case Rep, 5(7):627-631, 13 Jul 2019
Cited by: 5 articles | PMID: 31341943 | PMCID: PMC6630042
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, [...] Alkuraya FS
Am J Hum Genet, 104(6):1182-1201, 23 May 2019
Cited by: 112 articles | PMID: 31130284 | PMCID: PMC6562004
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Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
BinEssa HA, Zou M, Al-Enezi AF, Alomrani B, Al-Faham MSA, Al-Rijjal RA, Meyer BF, Shi Y
Bone, 125:186-193, 15 May 2019
Cited by: 16 articles | PMID: 31102713
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Bohlega SA, Abou-Al-Shaar H, AlDakheel A, Alajlan H, Bohlega BS, Meyer BF, Monies D, Cupler EJ, Al-Saif AM
Parkinsonism Relat Disord, 64:145-149, 28 Feb 2019
Cited by: 13 articles | PMID: 30975617
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1-25 of 137 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Quantifying the impact of key factors on the carbon mitigation potential of managed temperate forests.

Circulating Tumour DNA Detection By The Urine-Informed Analysis Of Archival Serum Samples From Muscle-Invasive Bladder Cancer Patients.

Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.

Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.

β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in Braf^V600E-driven thyroid cancer cells.

The clinical utility of rapid exome sequencing in a consanguineous population.

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Higher susceptibility of beech to drought in comparison to oak

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

β-Catenin Attenuation Inhibits Tumor Growth and Promotes Differentiation in a BRAF^V600E-Driven Thyroid Cancer Animal Model.

Data Mining for the Identification of Known and Candidate Transthyretin Amyloidosis Variants in the Saudi Population

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION.

Associations of autozygosity with a broad range of human phenotypes.

An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.

Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer.

A novel KIT mutation in a family with expanded syndrome of piebaldism.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

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