Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Tomáš Zárybnický; Anne Heikkinen; Salla M. Kangas; Marika Karikoski; Guillermo Antonio Martinez-Nieto; Miia H. Salo; Johanna Uusimaa; Reetta Vuolteenaho; Reetta Hinttala; Petra Sipilä; Satu Kuure

doi:10.3390/cells10113158

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Tomáš Zárybnický, Anne Heikkinen, Salla M. Kangas, Marika Karikoski, Guillermo Antonio Martinez-Nieto, Miia H. Salo, Johanna Uusimaa, Reetta Vuolteenaho, Reetta Hinttala, Petra Sipilä, Satu Kuure

Research output: Contribution to journal › Review Article › peer-review

Original language	English
Article number	3158
Journal	Cells
Volume	10
Issue number	11
Number of pages	24
ISSN	2073-4409
DOIs	https://doi.org/10.3390/cells10113158
Publication status	Published - Nov 2021
MoE publication type	A2 Review article in a scientific journal

Fields of Science

rare diseases
monogenic diseases
mouse models
CRISPR/Cas9
genome engineering
Finnish disease heritage
3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY
NEURONAL CEROID-LIPOFUSCINOSIS
LYSOSOMAL STORAGE DISORDER
CARTILAGE-HAIR HYPOPLASIA
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN
STEM-CELL TRANSPLANTATION
DEGENERATION MND MUTANT
ACUTE FATTY LIVER
MOUSE MODEL
HYDROLETHALUS SYNDROME
1182 Biochemistry, cell and molecular biology

Access to Document

10.3390/cells10113158

cells-10-03158Final published version, 464 KBLicence: CC BY

Cite this

@article{457003ad4e0045a68044aa8622ea259d,

title = "Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage",

keywords = "rare diseases, monogenic diseases, mouse models, CRISPR/Cas9, genome engineering, Finnish disease heritage, 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, NEURONAL CEROID-LIPOFUSCINOSIS, LYSOSOMAL STORAGE DISORDER, CARTILAGE-HAIR HYPOPLASIA, MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, STEM-CELL TRANSPLANTATION, DEGENERATION MND MUTANT, ACUTE FATTY LIVER, MOUSE MODEL, HYDROLETHALUS SYNDROME, 1182 Biochemistry, cell and molecular biology",

author = "Tom{\'a}{\v s} Z{\'a}rybnick{\'y} and Anne Heikkinen and Kangas, {Salla M.} and Marika Karikoski and Martinez-Nieto, {Guillermo Antonio} and Salo, {Miia H.} and Johanna Uusimaa and Reetta Vuolteenaho and Reetta Hinttala and Petra Sipil{\"a} and Satu Kuure",

year = "2021",

month = nov,

doi = "10.3390/cells10113158",

language = "English",

volume = "10",

journal = "Cells",

issn = "2073-4409",

publisher = "MDPI",

number = "11",

}

TY - JOUR

T1 - Modeling Rare Human Disorders in Mice

T2 - The Finnish Disease Heritage

AU - Zárybnický, Tomáš

AU - Heikkinen, Anne

AU - Kangas, Salla M.

AU - Karikoski, Marika

AU - Martinez-Nieto, Guillermo Antonio

AU - Salo, Miia H.

AU - Uusimaa, Johanna

AU - Vuolteenaho, Reetta

AU - Hinttala, Reetta

AU - Sipilä, Petra

AU - Kuure, Satu

PY - 2021/11

Y1 - 2021/11

KW - rare diseases

KW - monogenic diseases

KW - mouse models

KW - CRISPR/Cas9

KW - genome engineering

KW - Finnish disease heritage

KW - 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

KW - NEURONAL CEROID-LIPOFUSCINOSIS

KW - LYSOSOMAL STORAGE DISORDER

KW - CARTILAGE-HAIR HYPOPLASIA

KW - MITOCHONDRIAL TRIFUNCTIONAL PROTEIN

KW - STEM-CELL TRANSPLANTATION

KW - DEGENERATION MND MUTANT

KW - ACUTE FATTY LIVER

KW - MOUSE MODEL

KW - HYDROLETHALUS SYNDROME

KW - 1182 Biochemistry, cell and molecular biology

U2 - 10.3390/cells10113158

DO - 10.3390/cells10113158

M3 - Review Article

SN - 2073-4409

VL - 10

JO - Cells

JF - Cells

IS - 11

M1 - 3158

ER -