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1
Pharmacologic inhibition of dipeptidyl peptidase 1 (cathepsin C) does not block in vitro granzyme-mediated target cell killing by CD8 T or NK cells

von Sutton, VR ; Watt, SV ; Akhlaghi, H ; et al.
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2
Eprenetapopt triggers ferroptosis, inhibits NFS1 cysteine desulfurase, and synergizes with serine and glycine dietary restriction

von Fujihara, KM ; Zhang, BZ ; Jackson, TD ; et al.
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3
Small Molecule Inhibitors of Lymphocyte Perforin as Focused Immunosuppressants for Infection and Autoimmunity

von Spicer, JA ; Huttunen, KM ; Jose, J ; et al.
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4
Preclinical Activity and Pharmacokinetic/Pharmacodynamic Relationship for a Series of Novel Benzenesulfonamide Perforin Inhibitors

von Gartlan, KH ; Jaiswal, JK ; Bull, MR ; et al.
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5
The Association of Body Composition and Musculoskeletal Characteristics with Police Recruit Performance: A Cross-Sectional Study.

von Sutton, VR ; Murphy, MC ; McCaskie, CJ ; et al.

Schlagworte: Journal Article
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6
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

von Marafi, D ; Fatih, JM ; Kaiyrzhanov, R ; et al.

Brain , 145 (3) pp. 909-924. (2022)

Schlagworte: SLC38A3; biallelic; glutamate transporter; glutamate/GABA-glutamine cycle
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7
Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability

von Cogné, B ; Ehresmann, S ; Beauregard-Lacroix, E ; et al.
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8
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

von Efthymiou, S ; Herman, I ; Rahman, F ; et al.

American Journal of Medical Genetics Part A , 185 (7) pp. 2241-2249. (2021)
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9
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

von Del Caño-Ochoa, F ; Ng, BG ; Abedalthagafi, M ; et al.

Genetics in Medicine (2020) (In press).

Schlagworte: aspartate transcarbamoylase; carbamoyl phosphate synthetase; congenital disorder of glycosylation; de novo pyrimidine biosynthesis; dihydroorotase
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10
Enabling global clinical collaborations on identifiable patient data: The Minerva initiative

von Nellaker C ; Alkuraya FS ; Baynam G ; et al.

Frontiers in Genetics, 2019
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11
Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative

von Nellåker, C ; Alkuraya, FS ; Baynam, G ; et al.
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12
Persistent Disability From Preacademy Injuries Impairs Physical Performance in Police Force Recruits: A Cross-sectional Study

von Sutton, VR ; Chivers, PT ; Hart, NH ; et al.

Schlagworte: Journal Article
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13
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

von Cheng, H ; Dharmadhikari, AV ; Varland, S ; et al.

urn:ISSN:0002-9297 ; urn:ISSN:1537-6605 ; American Journal of Human Genetics, 102, 5, 985-994

Schlagworte: 31 Biological Sciences; 3102 Bioinformatics and Computational Biology; 32 Biomedical and Clinical Sciences; 3105 Genetics; Rare Diseases; Human Genome; Biotechnology; Pediatric Research Initiative; Genetics; Brain Disorders; Intellectual and Developmental Disabilities (IDD); Autism; Congenital Structural Anomalies; Clinical Research; Mental Health; 2.1 Biological and endogenous factors; 1.1 Normal biological development and functioning; Abnormalities; Multiple; Adolescent; Adult; Autism Spectrum Disorder; Cell Line; Child; Exons; Female; Gene Expression Regulation; Genetic Predisposition to Disease; Genetic Variation; Humans
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14
Epidemiology of musculoskeletal injury in military recruits: a systematic review and meta-analysis.

von Murphy, MC ; Stannard, J ; Sutton, VR ; et al.

Schlagworte: 1106 Human Movement and Sports Sciences, 1199 Other Medical and Health Sciences; Journal Article
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15
19q13.11 cryptic deletion : description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

von Gana S ; Veggiotti P ; Sciacca G ; et al.

Schlagworte: array-CGH; chromosome 19q13.11 deletion syndrome; KRAB-ZNF gene; WTIP gene; sex disorders; Settore MED/39 - Neuropsichiatria Infantile
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16
Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1

von Castiblanco, D ; Rudd-Schmidt, JA ; Noori, T ; et al.
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17
Beyond target cell death – Granzyme serine proteases in health and disease

von Nüssing, S ; Sutton, VR ; Trapani, JA ; et al.
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18
Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia.

von Calame, DG ; Herman, I ; Maroofian, R ; et al.
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19
Clinical delineation and natural history of the PIK3CA -related overgrowth spectrum

von Keppler-Noreuil KM ; Sapp JC ; Lindhurst MJ ; et al.

American Journal of Medical Genetics Part A, July 2014
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20
A Natural Genetic Variant of Granzyme B Confers Lethality to a Common Viral Infection

von Andoniou, CE ; Sutton, VR ; Wikstrom, ME ; et al.
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21
Granzyme B triggers a prolonged pressure to die in Bcl-2 overexpressing cells, defining a window of opportunity for effective treatment with ABT-737

von Sutton, VR ; Sedelies, K ; Dewson, G ; et al.
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22
A novel role for granzymes in anti-tumor immunity

von Hoves, S ; Sutton, VR ; Trapani, JA
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23
Residual active granzyme B in cathepsin C-null lymphocytes is sufficient for perforin-dependent target cell apoptosis

von Sutton, VR ; Waterhouse, NJ ; Browne, KA ; et al.
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24
Cytotoxic T lymphocyte-induced killing in the absence of granzymes A and B is unique and distinct from both apoptosis and perforin-dependent lysis

von Waterhouse, NJ ; Sutton, VR ; Sedelies, KA ; et al.
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25
A clathrin/dynamin- and mannose-6-phosphate receptor-independent pathway for granzyme B-induced cell death

von Trapani, JA ; Sutton, VR ; Thia, KYT ; et al.

Schlagworte: Cell Development (incl. Cell Division and Apoptosis); Tumor Immunology; Cancer and Related Disorders
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