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Walter H A Kahr

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Articles 86
Citations 1591
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Recent Articles
11.
Liu R, Al-Molieh Y, Chen S, Drobac M, Urban D, Chen C, et al.
J Biol Chem . 2023 Apr; 299(6):104718. PMID: 37062417
Loss-of-function variants of vacuolar protein sorting proteins VPS33B and VPS16B (VIPAS39) are causative for arthrogryposis, renal dysfunction, and cholestasis syndrome, where early lethality of patients indicates that VPS33B and VPS16B...
12.
Pluthero F, Kahr W
Platelets . 2022 Dec; 34(1):2157808. PMID: 36572649
Many roles of human platelets in health and disease are linked to their ability to transport and secrete a variety of small molecules and proteins carried in dense (δ-) and...
13.
Mathews N, Pluthero F, Rand M, Stain A, Carcao M, Blanchette V, et al.
Res Pract Thromb Haemost . 2022 Oct; 6(6):e12800. PMID: 36186102
Background: Severe hemophilia A (SHA) patients vary in severity of bleeding, arthropathy, and requirements for replacement factor VIII (FVIII). Baseline hemostatic activity assays using calibrated automated thrombography (CAT) and thromboelastography...
14.
Kumar R, Dunn A, Schneiderman J, Gonzales A, Bouskill V, Widener P, et al.
Blood . 2022 Jul; 140(10):1156-1166. PMID: 35839450
Persons with mild hemophilia A (HA) may use intranasal desmopressin prior to sports participation. Desmopressin is expensive and can cause vomiting, headache, palpitation, and occasionally seizures. Our group has previously...
15.
Penon-Portmann M, Westbury S, Li L, Pluthero F, Liu R, Yao H, et al.
J Thromb Haemost . 2022 Mar; 20(7):1712-1719. PMID: 35325493
Background: Platelet α-granule biogenesis in precursor megakaryocytes is critically dependent on VPS33B and VPS16B, as demonstrated by the platelet α-granule deficiency seen in the rare multisystem disorder arthrogryposis, renal dysfunction,...
16.
Pluthero F, Westbury S, Kahr W
Br J Haematol . 2022 Feb; 197(3):245-246. PMID: 35187641
No abstract available.
17.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, et al.
Nat Genet . 2022 Jan; 54(2):213. PMID: 34987219
No abstract available.
18.
Bartoszko J, Li H, FitzGerald J, Ho L, Serrick C, Kahr W, et al.
Can J Anaesth . 2021 Dec; 69(3):311-322. PMID: 34939141
Background: Cardiac surgery with cardiopulmonary bypass (CPB) is associated with coagulopathic bleeding. Impaired thrombin generation may be an important cause of coagulopathic bleeding but is poorly measured by existing hemostatic...
19.
Lee-Sundlov M, Burns R, Kim T, Grozovsky R, Giannini S, Rivadeneyra L, et al.
Blood . 2021 Jul; 138(23):2408-2424. PMID: 34324649
Immune thrombocytopenia (ITP) is a platelet disorder. Pediatric and adult ITP have been associated with sialic acid alterations, but the pathophysiology of ITP remains elusive, and ITP is often a...
20.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, et al.
Nat Genet . 2021 Mar; 53(4):500-510. PMID: 33782605
Spleen tyrosine kinase (SYK) is a critical immune signaling molecule and therapeutic target. We identified damaging monoallelic SYK variants in six patients with immune deficiency, multi-organ inflammatory disease such as...