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Showing 1 to 12 of 25 entries
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Constructing and Modifying Sequence Statistics for relevent Using informR in .

Journal of statistical software

Marcum CS, Butts CT.
PMID: 26185488
J Stat Softw. 2015 Mar;64(5):1-36.

The

Synthesis of Substituted 2-phenylhistamines via a Microwave Promoted Suzuki Coupling.

Tetrahedron letters

Skoumbourdis AP, Moore S, Landsman M, Thomas CJ.
PMID: 19112479
Tetrahedron Lett. 2007 Dec 24;48(52):9140-9143. doi: 10.1016/j.tetlet.2007.10.119.

Substitutions on the 2-position of the imidizole ring of histamine have proven useful in a number of biochemical settings. Current art for the synthesis of these constructs relies upon a cumbersome and low-yielding condensation reaction. Here-in we report a...

Mixed Race: Understanding Difference in the Genome Era.

Social forces; a scientific medium of social study and interpretation

Phillips EM, Odunlami AO, Bonham VL.
PMID: 19079741
Soc Forces. 2007 Dec;86(2):795-820. doi: 10.1093/sf/86.2.795.

This article presents the findings of a qualitative study of multiracial individuals' understanding of identity, race and human genetic variation. The debate regarding the correlation between race, genetics and disease has expanded, but limited empirical data has been collected...

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Molecular genetics and metabolism

Ferreira CR, Martinelli D, Blau N.
PMID: 34304991
Mol Genet Metab. 2021 Sep-Oct;134(1):87-95. doi: 10.1016/j.ymgme.2021.07.005. Epub 2021 Jul 21.

Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal...

Total synthesis of LL-Z1640-2 utilizing a late-stage intramolecular Nozaki-Hiyama-Kishi reaction.

Tetrahedron letters

Leclair CA, Boxer MB, Thomas CJ, Maloney DJ.
PMID: 21516235
Tetrahedron Lett. 2010 Dec 29;51(52):6852-6855. doi: 10.1016/j.tetlet.2010.10.092.

A total synthesis of LL-Z1640-2 (2), a potent and selective kinase inhibitor, has been completed. The key step of the convergent synthesis utilized a late-stage intramolecular Nozaki-Hiyama-Kishi (NHK) reaction to close the macrocycle at the C6'-C7' bond.

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Molecular genetics and metabolism

Ferreira CR, Martinelli D, Blau N.
PMID: 34304991
Mol Genet Metab. 2021 Sep-Oct;134(1):87-95. doi: 10.1016/j.ymgme.2021.07.005. Epub 2021 Jul 21.

Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal...

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

Neuroscience letters

Toro C, Zainab M, Tifft CJ.
PMID: 34450229
Neurosci Lett. 2021 Nov 01;764:136195. doi: 10.1016/j.neulet.2021.136195. Epub 2021 Aug 25.

No abstract available.

Finding cardiovascular disease genes in the dog.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology

Parker HG, Meurs KM, Ostrander EA.
PMID: 19083345
J Vet Cardiol. 2006 Nov;8(2):115-27. doi: 10.1016/j.jvc.2006.04.002. Epub 2006 Oct 10.

Recent advances in canine genomics are changing the landscape of veterinary biology, and by default, veterinary medicine. No longer are clinicians locked into traditional methods of diagnoses and therapy. Rather, major advances in canine genetics and genomics from the...

High-risk endometrial cancer proteomic profiling reveals that FBXW7 mutation alters L1CAM and TGM2 protein levels.

Cancer

Urick ME, Yu EJ, Bell DW.
PMID: 33872388
Cancer. 2021 Aug 15;127(16):2905-2915. doi: 10.1002/cncr.33567. Epub 2021 Apr 19.

BACKGROUND: FBXW7 is frequently somatically mutated in grade 3 endometrioid endometrial cancers (G3EECs) and serous endometrial cancers (SECs), which are high-risk cancers associated with poor outcomes and in need of novel treatment options. The aim of this study was...

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.

Circulation. Genomic and precision medicine

Ekure EN, Adeyemo A, Liu H, Sokunbi O, Kalu N, Martinez AF, Owosela B, Tekendo-Ngongang C, Addissie YA, Olusegun-Joseph A, Ikebudu D, Berger SI, Muenke M, Han Z, Kruszka P.
PMID: 33448881
Circ Genom Precis Med. 2021 Feb;14(1):e003108. doi: 10.1161/CIRCGEN.120.003108. Epub 2021 Jan 15.

BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects roughly 1% of the global population. There have been many large CHD sequencing projects in developing countries but none in sub-Saharan Africa. In this exome sequencing...

Novel .

Hypertension (Dallas, Tex. : 1979)

Chatrathi HE, Collins JC, Wolfe LA, Markello TC, Adams DR, Gahl WA, Werner A, Sharma P.
PMID: 34878901
Hypertension. 2022 Jan;79(1):60-75. doi: 10.1161/HYPERTENSIONAHA.121.17624. Epub 2021 Dec 02.

Familial hyperkalemic hypertension is caused by pathogenic variants in genes of the CUL3 (cullin-3)-KLHL3 (kelch-like-family-member-3)-WNK (with no-lysine [K] kinase) pathway, manifesting clinically as hyperkalemia, metabolic acidosis, and high systolic blood pressure. The ubiquitin E3 ligase CUL3-KLHL3 targets WNK kinases...

Compound Management for Quantitative High-Throughput Screening.

JALA (Charlottesville, Va.)

Yasgar A, Shinn P, Jadhav A, Auld D, Michael S, Zheng W, Austin CP, Inglese J, Simeonov A.
PMID: 18496600
JALA Charlottesv Va. 2008 Apr;13(2):79-89. doi: 10.1016/j.jala.2007.12.004.

An efficient and versatile Compound Management operation is essential for the success of all downstream processes in high-throughput screening (HTS) and small molecule lead development. Staff, equipment, and processes need to be not only reliable, but remain flexible and...

Showing 1 to 12 of 25 entries