Macklin Sarah相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Induction of proximal tubular proliferation and lengthening in response to sodium glucose linked cotransporter-2 inhibition in experimental rats.

抑制钠-葡萄糖协同转运蛋白-2可诱导实验大鼠近端肾小管增殖和延长

期刊:Journal of Diabetes Investigation

doi:10.1111/jdi.70043

Wu Ellen, Macklin Sarah, Zhang Yanling, Thai Kerri, Nghiem Linda, Di Ciano-Oliveira Caterina, Coelho Nuno, Wang Hai, Advani Suzanne L, Desjardins Jean-FranÃ§ois, Yuen Darren A, Misra Paraish, Connelly Kim A, Nyengaard Jens R, Gilbert Richard E

免疫/内分泌

发表日期：2025

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AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature

AXIN2相关少牙症-结直肠癌综合征伴腭裂可能是一种新的特征

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.2157

Roht, Laura; Hyldebrandt, Hanne K; Stormorken, Astrid T; Nordgarden, Hilde; Sijmons, Rolf H; Bos, Dennis K; Riegert-Johnson, Douglas; Mantia-Macklin, Sarah; Ilves, Pilvi; Muru, Kai; Wojcik, Monica H; Kahre, Tiina; Õunap, Katrin

发表日期：2023

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Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

对一名患有广泛性主动脉、颈动脉和腹腔动脉夹层并伴有遗传功能障碍的患者进行MYLK基因缺失分子效应的研究

期刊:Case Reports in Medicine

影响因子:0.7

doi:10.1155/2020/5108052

Macklin, Sarah K; Bruno, Katelyn A; Vadlamudi, Charitha; Helmi, Haytham; Samreen, Ayesha; Mohammad, Ahmed N; Hines, Stepahnie; Atwal, Paldeep S; Caulfield, Thomas R

发表日期：2020

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Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

通过蛋白质分子建模对ABCD1基因中的致病变异进行表征

期刊:Case Reports in Genetics

doi:10.1155/2020/3256539

Richter, John E Jr; Vadlamudi, Charitha; Macklin, Sarah K; Samreen, Ayesha; Helmi, Haytham; Broderick, Daniel; Mohammad, Ahmed N; Hines, Stephanie L; VanGerpen, Jay A; Atwal, Paldeep S; Caulfield, Thomas R

发表日期：2020

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Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences

除BRCA1和BRCA2基因外，其他致病性乳腺癌变异患者的医疗保健经历：定性访谈

期刊:Hereditary Cancer in Clinical Practice

影响因子:2.4

doi:10.1186/s13053-019-0132-6

Clift, Kristin E; Macklin, Sarah K; Hines, Stephanie L

发表日期：2019

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Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer

胰腺癌家族史患者中致病变异的发生率

期刊:Frontiers in Oncology

影响因子:3.3

doi:10.3389/fonc.2018.00330

Macklin, Sarah K; Kasi, Pashtoon M; Jackson, Jessica L; Hines, Stephanie L

发表日期：2018

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Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

个性化分子建模用于精确定位与遗传性癌症综合征相关的蛋白质功能障碍和变异

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.447

Macklin, Sarah; Mohammed, Ahmed; Jackson, Jessica; Hines, Stephanie L; Atwal, Paldeep S; Caulfield, Thomas

发表日期：2018

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Maple syrup urine disease: mechanisms and management

枫糖尿症：机制和治疗

期刊:Application of Clinical Genetics

影响因子:2.8

doi:10.2147/TACG.S125962

Blackburn, Patrick R; Gass, Jennifer M; Vairo, Filippo Pinto E; Farnham, Kristen M; Atwal, Herjot K; Macklin, Sarah; Klee, Eric W; Atwal, Paldeep S

发表日期：2017

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Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1

迟发性无症状胰腺神经内分泌肿瘤——MEN1表型扩增病例报告

期刊:Hereditary Cancer in Clinical Practice

影响因子:2.4

doi:10.1186/s13053-017-0070-0

Kaiwar, Charu; Macklin, Sarah K; Gass, Jennifer M; Jackson, Jessica; Klee, Eric W; Hines, Stephanie L; Stauffer, John A; Atwal, Paldeep S

发表日期：2017

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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

对一名疑似线粒体肌病患者进行全外显子组测序，发现RYR1基因存在新的复合杂合变异。

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.280

Blackburn, Patrick R; Selcen, Duygu; Gass, Jennifer M; Jackson, Jessica L; Macklin, Sarah; Cousin, Margot A; Boczek, Nicole J; Klee, Eric W; Dimberg, Elliot L; Kennelly, Kathleen D; Atwal, Paldeep S

发表日期：2017

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