Kyle P Flannery
Overview
Explore the profile of Kyle P Flannery including associated specialties, affiliations and a list of published articles.
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6
Citations
3
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0
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Recent Articles
1.
Calame D, Wong J, Panda P, Nguyen D, Leong N, Sangermano R, et al.
Genet Med
. 2024 Sep;
27(1):101273.
PMID: 39306721
Purpose: FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1 mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1...
2.
Flannery K, Safwat S, Matsell E, Battula N, Hamed A, Mohamed I, et al.
Neurogenetics
. 2024 Jul;
25(4):425-433.
PMID: 39066872
ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to...
3.
Flannery K, Safwat S, Matsell E, Battula N, Hamed A, Mohamed I, et al.
medRxiv
. 2024 May;
PMID: 38798571
ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in are known to cause cerebellar...
4.
Calame D, Wong J, Panda P, Nguyen D, Leong N, Sangermano R, et al.
medRxiv
. 2024 Feb;
PMID: 38405817
encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and...
5.
Safwat S, Flannery K, El Beheiry A, Mokhtar M, Abdalla E, Manzini M
Neurogenetics
. 2024 Jan;
25(2):93-102.
PMID: 38296890
Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and motor developmental delay associated with brain malformations with or without eye anomalies in...
6.
Karas B, Terez K, Mowla S, Battula N, Flannery K, Gural B, et al.
Hum Mol Genet
. 2024 Jan;
33(8):709-723.
PMID: 38272461
Biallelic mutations in Protein O-mannosyltransferase 1 (POMT1) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies. POMT1 is a glycosyltransferase responsible...