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Select item 108029461.

A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses

Frederik Krull, Martina Bleyer, Jana Schäfer, Bertram Brenig

PLoS One. 2024; 19(1): e0291411. Published online 2024 Jan 22. doi: 10.1371/journal.pone.0291411

PMCID:: PMC10802946

Article PDF–2.5M

Select item 103640442.

Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG

Carmen García-Cabo, Paula Carvajal-García, Iván Fernández-Vega, Jorge Peña-Suárez, Valentín Mateos-Marcos, Patricia Suárez-Santos, Victoria Álvarez-Martínez, Germán Morís-de la Tassa

Rev Neurol. 2023; 76(3): 75–81. Spanish. Published online 2023 Feb 1. doi: 10.33588/rn.7603.2022322

PMCID:: PMC10364044

Article PDF–1.0M

Select item 103571423.

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

J Neuromuscul Dis. 2023; 10(4): 615–626. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-221618

PMCID:: PMC10357142

Article PDF–750K

Select item 94467314.

A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia

Giovanni Capuzzello, Joana Gonçalves Pontes Jacinto, Irene Monika Häfliger, Gail E. Chapman, Sara Soto Martin, Lorenzo Viora, Nicholas N. Jonsson, Cord Drögemüller

Acta Vet Scand. 2022; 64: 23. Published online 2022 Sep 6. doi: 10.1186/s13028-022-00641-2

PMCID:: PMC9446731

Article PDF–2.1M

Select item 91846635.

Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin

Salma Adham, Nicole Revencu, Sandrine Mestre, Monira Nou‐Howaldt, Hélène Vernhet‐Kovacsik, Isabelle Quéré

Mol Genet Genomic Med. 2022 Jun; 10(6): e1931. Published online 2022 Apr 15. doi: 10.1002/mgg3.1931

PMCID:: PMC9184663

Article PDF–736K

Select item 88608776.

Well-differentiated lipomatous neoplasms with p53 alterations: a clinicopathological and molecular study of eight cases with features of atypical pleomorphic lipomatous tumour

Phoebe M Hammer, Christian A Kunder, Brooke E Howitt, Gregory W Charville

Histopathology. Author manuscript; available in PMC 2023 Mar 1.

Published in final edited form as: Histopathology. 2022 Mar; 80(4): 656–664. Published online 2022 Jan 5. doi: 10.1111/his.14593

PMCID:: PMC8860877

Article PDF–2.3M

Select item 87833527.

A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle

Joana G. P. Jacinto, Irene M. Häfliger, Marco Bernardini, Maria Teresa Mandara, Ezio Bianchi, Marilena Bolcato, Noemi Romagnoli, Arcangelo Gentile, Cord Drögemüller

J Vet Intern Med. 2022 Jan-Feb; 36(1): 292–299. Published online 2021 Nov 19. doi: 10.1111/jvim.16316

PMCID:: PMC8783352

Article PDF–1.5M

Select item 87396578.

DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects

Irene M. Häfliger, Caroline T. Koch, Astrid Michel, Silvia Rüfenacht, Mireille Meylan, Monika M. Welle, Cord Drögemüller

BMC Vet Res. 2022; 18: 20. Published online 2022 Jan 7. doi: 10.1186/s12917-021-03113-3

PMCID:: PMC8739657

Article PDF–1.9M

Select item 81857879.

Autosomal Trisomy in a Heifer

Auli Mäkinen, Ilkka Alitalo, Matti Alanko

Acta Vet Scand. 1987; 28(1): 1–8. Published online 1987 Mar 1. doi: 10.1186/BF03548250

PMCID:: PMC8185787

Summary PDF–2.8M

Select item 814710410.

A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle

Thibaud Kuca, Brandy M. Marron, Joana G. P. Jacinto, Julia M. Paris, Christian Gerspach, Jonathan E. Beever, Cord Drögemüller

Genes (Basel) 2021 May; 12(5): 643. Published online 2021 Apr 26. doi: 10.3390/genes12050643

PMCID:: PMC8147104

Article PDF–1.3M

Select item 804323911.

A Case of Trisomy 22 in a Live Hereford Calf

K. Christensen, L. Juul

Acta Vet Scand. 1999; 40(1): 85–88. Published online 1999 Mar 1. doi: 10.1186/BF03547044

PMCID:: PMC8043239

Summary PDF–644K

Select item 792146712.

PIWI-interacting RNA sequencing profiles in maternal plasma-derived exosomes reveal novel non-invasive prenatal biomarkers for the early diagnosis of nonsyndromic cleft lip and palate

Shanshan Jia, Qiang Zhang, Yu Wang, Yanfu Wang, Dan Liu, Yiwen He, Xiaowei Wei, Hui Gu, Wei Ma, Wenting Luo, Zhengwei Yuan

EBioMedicine. 2021 Mar; 65: 103253. Published online 2021 Feb 24. doi: 10.1016/j.ebiom.2021.103253

PMCID:: PMC7921467

Article PDF–3.6M

Select item 777729213.

De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

Marina Braun, Annika Lehmbecker, Deborah Eikelberg, Maren Hellige, Andreas Beineke, Julia Metzger, Ottmar Distl

BMC Genomics. 2021; 22: 1. Published online 2021 Jan 2. doi: 10.1186/s12864-020-07350-y

PMCID:: PMC7777292

Article PDF–4.0M

Select item 769480214.

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex

Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Cord Drögemüller, Jørgen S. Agerholm

J Vet Intern Med. 2020 Nov-Dec; 34(6): 2800–2807. Published online 2020 Nov 2. doi: 10.1111/jvim.15943

PMCID:: PMC7694802

Article PDF–5.8M

Select item 769060615.

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle

Renae L. Sieck, Anna M. Fuller, Patrick S. Bedwell, Jack A. Ward, Stacy K. Sanders, Shi-Hua Xiang, Sichong Peng, Jessica L. Petersen, David J. Steffen

Genes (Basel) 2020 Nov; 11(11): 1246. Published online 2020 Oct 22. doi: 10.3390/genes11111246

PMCID:: PMC7690606

Article PDF–1.7M

Select item 748758516.

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Joana Gonçalves Pontes Jacinto, Irene Monika Häfliger, Anna Letko, Cord Drögemüller, Jørgen Steen Agerholm

Acta Vet Scand. 2020; 62: 49. Published online 2020 Sep 7. doi: 10.1186/s13028-020-00548-w

PMCID:: PMC7487585

Article PDF–1.6M

Select item 746061117.

IDH2 Deficiency Is Critical in Myogenesis and Fatty Acid Metabolism in Mice Skeletal Muscle

Jeong Hoon Pan, Jingsi Tang, Young Jun Kim, Jin Hyup Lee, Eui-Cheol Shin, Jiangchao Zhao, Kee-Hong Kim, Kyung A. Hwang, Yan Huang, Jae Kyeom Kim

Int J Mol Sci. 2020 Aug; 21(16): 5596. Published online 2020 Aug 5. doi: 10.3390/ijms21165596

PMCID:: PMC7460611

Article PDF–1.1M

Select item 745863418.

Identification of miR-200a-5p targeting the peptide transporter TAP1 and its association with the clinical outcome of melanoma patients

Maria-Filothei Lazaridou, Evamaria Gonschorek, Chiara Massa, Michael Friedrich, Diana Handke, Anja Mueller, Simon Jasinski-Bergner, Reinhard Dummer, Peter Koelblinger, Barbara Seliger

Oncoimmunology. 2020; 9(1): 1774323. Published online 2020 Jun 3. doi: 10.1080/2162402X.2020.1774323