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2,827 Newest Publications in human molecular genetics

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FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

18-Jun-2018 | Bellesso S, Salvalaio M, Lualdi S, et al., Human Molecular Genetics, 2018

Human Molecular Genetics, 2018, 27(13), 2262–2275.

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A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos

24-Apr-2018 | Yu Q, Lin B, Xie S, et al., Human Molecular Genetics, 2018

Abstract Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal syndrome. Causal mutations have been identified for these syndromes ...

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Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero

12-Apr-2018 | Warrington N, Shevroja E, Hemani G, et al., Human Molecular Genetics, 2018

Abstract The ratio of the length of the index finger to that of the ring finger (2D:4D) is sexually dimorphic and is commonly used as a non-invasive biomarker of prenatal androgen exposure. Most association studies of 2D:4D ratio with a diverse range of sex-specific traits have typically involved ...

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NAFLD risk alleles in PNPLA3, TM6SF2, GCKR and LYPLAL1 show divergent metabolic effects

10-Apr-2018 | Sliz E, Sebert S, Würtz P, et al., Human Molecular Genetics, 2018

Abstract Fatty liver has been associated with unfavourable metabolic changes in circulation. To provide insights in fatty liver-related metabolic deviations, we compared metabolic association profile of fatty liver versus metabolic association profiles of genotypes increasing the risk of ...

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FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

10-Apr-2018 | Bellesso S, Salvalaio M, Lualdi S, et al., Human Molecular Genetics, 2018

Abstract Skeletal abnormalities represent a major clinical burden in patients affected by the lysosomal storage disorder mucopolysaccharidosis type II (MPSII, OMIM #309900). While extensive research has emphasized the detrimental role of stored glycosaminoglycans (GAGs) in the bone marrow (BM), a ...

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The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

28-Mar-2018 | Jordan V, Beck T, Hernandez-Garcia A, et al., Human Molecular Genetics, 2018

Abstract Congenital diaphragmatic hernia (CDH) has been reported twice in individuals with a clinical diagnosis of Fraser syndrome, a genetic disorder that can be caused by recessive mutations affecting FREM2 and FRAS1. In the extracellular matrix, FREM2 and FRAS1 form a self-stabilizing complex ...

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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

24-Mar-2018 | Jacquemont S, Pacini L, Jønch A, et al., Human Molecular Genetics, 2018

Abstract Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental retardation protein (FMRP). In biological models for the disease, this leads to upregulated mRNA translation and as a consequence, deficits ...

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Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons

21-Mar-2018 | Canali G, Garcia M, Hivert B, et al., Human Molecular Genetics, 2018

Abstract The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous missense CNTNAP2 variants have been identified in ASD patients. However, most of them are ...

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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

16-Mar-2018 | Chen A, Tiosano D, Guran T, et al., Human Molecular Genetics, 2018

Abstract Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however, the genetic etiology of ...

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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

15-Mar-2018 | Peng Y, Shinde D, Alexander Valencia C, et al., Human Molecular Genetics, 2018

Human Molecular Genetics, 2017, 26(24), 4937–4950.

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