Katie L Uhl
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Explore the profile of Katie L Uhl including associated specialties, affiliations and a list of published articles.
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12
Citations
108
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Recent Articles
1.
Lee K, Stafford A, Pacheco-Vergara M, Cichewicz K, Canales C, Seban N, et al.
bioRxiv
. 2024 Jun;
PMID: 38826421
Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments, neurobehavioral phenotypes including autism and attention deficit hyperactivity disorder (ADHD), and seizures. Limited studies and resources are available...
2.
Schultz C, Sheldon R, Xie H, Demireva E, Uhl K, Agnew D, et al.
Biol Open
. 2023 Feb;
12(3).
PMID: 36848144
The eukaryotic translation initiation factor 5A1 (eIF5A1) and 5A2 (eIF5A2) are important proteins in a variety of physiological and pathophysiological processes and their function has been linked to neurodevelopmental disorders,...
3.
Das A, Sherry E, Vaughan R, Henderson M, Zieba J, Uhl K, et al.
Front Cell Dev Biol
. 2022 Dec;
10:1033695.
PMID: 36467401
The small GTPase family is well-studied in cancer and cellular physiology. With 162 annotated human genes, the family has a broad expression throughout cells of the body. Members of the...
4.
Gupta R, Leimanis M, Adams M, Bachmann A, Uhl K, Bupp C, et al.
Am J Physiol Lung Cell Mol Physiol
. 2021 Apr;
320(6):L1147-L1157.
PMID: 33851876
Viral infections affecting the lower respiratory tract place enormous burdens on hospitals. As neither vaccines nor antiviral agents exist for many viruses, understanding risk factors and outcomes in each patient...
5.
Prokop J, Bupp C, Frisch A, Bilinovich S, Campbell D, Vogt D, et al.
Genes (Basel)
. 2021 Apr;
12(4).
PMID: 33806076
Ornithine decarboxylase 1 ( gene) has been linked through gain-of-function variants to a rare disease featuring developmental delay, alopecia, macrocephaly, and structural brain anomalies. has been linked to additional diseases...
6.
Bilinovich S, Uhl K, Lewis K, Soehnlen X, Williams M, Vogt D, et al.
Dev Neurosci
. 2021 Mar;
42(5-6):195-207.
PMID: 33657557
Autism spectrum disorder (ASD) manifests early in childhood. While genetic variants increase risk for ASD, a growing body of literature has established that in utero chemical exposures also contribute to...
7.
Keele G, Prokop J, He H, Holl K, Littrell J, Deal A, et al.
Sci Rep
. 2021 Jan;
11(1):2071.
PMID: 33483609
Chronic kidney disease (CKD), which can ultimately progress to kidney failure, is influenced by genetics and the environment. Genes identified in human genome wide association studies (GWAS) explain only a...
8.
Afrin A, Prokop J, Underwood A, Uhl K, VanSickle E, Baruwal R, et al.
Cold Spring Harb Mol Case Stud
. 2020 Dec;
6(6).
PMID: 33335012
We present a male patient born at 38-wk gestation with rhizomelic shortening of extremities, hepatomegaly, ventriculomegaly, heart failure, severely depressed left ventricular function, biventricular hypertrophy, and biatrial enlargement. Additional physical...
9.
Sanders M, Lawlor J, Li X, Schuen J, Millard S, Zhang X, et al.
Hum Genet
. 2020 Aug;
140(3):423-439.
PMID: 32734384
Cystic Fibrosis (CF) is caused most often by removal of amino acid 508 (Phe508del, deltaF508) within CFTR, yet dozens of additional CFTR variants are known to give rise to CF...
10.
Bupp C, Schultz C, Uhl K, Rajasekaran S, Bachmann A
Am J Med Genet A
. 2018 Sep;
176(12):2548-2553.
PMID: 30239107
The ornithine decarboxylase 1 (ODC1) gene plays an important role in physiological and cell developmental processes including embryogenesis, organogenesis, and neoplastic cell growth. Here, we report an 32-month-old Caucasian female...