「Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes<Abstract of dissertation>」の関連論文
-
Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
-
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
-
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
-
A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
-
Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
-
Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
-
Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
-
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
-
An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
-
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
-
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
-
An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development
-
Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
-
Analysis of aging-related epigenetic modifications in murine male germline cells
-
Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
-
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
-
Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
-
Collective fusion activity determines neurotropism of an en bloc transmitted enveloped virus
-
Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
-
Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
-
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
-
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
-
Systemic recombination in a novel Cre transgenic line, CAG-Cre C57BL/6N mouse
-
Genetic basis of female-limited polymorphism of the damselfly Ischnura senegalensis
-
Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
-
Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
-
Mechanisms by which Bacterial and Viral Pathogens cause Ovarian dysfunction
-
Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
-
Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
-
MDGA1-deficiency attenuates prepulse inhibition with alterations of dopamine and serotonin metabolism : An ex vivo HPLC-ECD analysis
-
Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets
-
Study of the role of CRMP2 during the nervous system development in zebrafish
-
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
-
Evolutionary genetics of socioemotional behavior in humans and other mammals
-
Genetic and Physiological Characterization of Tomato F-box Gene HAWAIIAN SKIRT Mutants
-
Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
-
Malfunctioning CD106-positive, short-term hematopoietic stem cells trigger diabetic neuropathy in mice by cell fusion.
-
Immunobiochemical, molecular biological, and reverse genetical studies on vitellogenin receptor candidates in medaka, Oryzias latipes [an abstract of entire text]
-
Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
-
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
-
BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
-
The role of H3K27 demethylation in retinal development
-
All reported non-canonical splice site variants in GLA cause aberrant splicing
-
Prickle2 and Igsf9b coordinately regulate the cytoarchitecture of the axon initial segment
-
Studies on Thermoregulation and Growth Performance in Chicks with av-UCP mutation
-
Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
-
Wilson’s disease model establishment from human induced pluripotent stem cells
-
Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
-
Discovery and biological significance of the sialate:O-sulfotransferases in vertebrates
-
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy