The latest medical research on Clinical Genetics

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about clinical genetics gathered by our medical AI research bot.

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BXSB/MpJ-Yaa mouse model of systemic autoimmune disease shows increased apoptotic germ cells in stage XII of the seminiferous epithelial cycle.

Cell and Tissue Research

In mammals, the reproductive system and autoimmunity regulate mutual functions. Importantly, systemic autoimmune diseases are thought to cause male...

Neuropilin-1 receptor in the rapid and selective estrogen estrogen-induced neurovascular remodeling of rat uterus.

Cell and Tissue Research

Sympathetic nerves innervate most organs and regulate organ blood flow. Specifically, in the uterus, estradiol (E2) elicits rapid degeneration of s...

Functional morphology of the primary olfactory centers in the brain of the hermit crab Coenobita clypeatus (Anomala, Coenobitidae).

Cell and Tissue Research

Terrestrial hermit crabs of the genus Coenobita display strong behavioral responses to volatile odors and are attracted by chemical cues of various...

A homozygous missense variant in the Homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower-limbs weakness and neurological manifestations.

J Gene Med

Progressive spastic ataxia is a heterogeneous disorder characterized by cerebellar ataxia and limb spasticity associated with other severe neurological complications. Spastic ataxia is classified into pure and complex types, inherited in both autosomal recessive and autosomal dominant manner. It is caused by pathogenic variants in at least eight different genes including NKX6-2 (MIM 607063) located on chromosome 10q26.3. The objective of this study is to identify the genetic variant(s) underlying progressive spastic ataxia and to establish the genotype-phenotype correlation.

We collected a large consanguineous family having four affected individuals segregating progressive spastic ataxia in an autosomal recessive manner. To investigate the molecular cause of the disease, genomic DNA of three affected individuals underwent whole exome sequencing. Results All the affected individuals showed progressive clinical features such as spastic ataxia, lower limb weakness and other mild neurological abnormalities. Whole exome sequencing data was analyzed using different filters. Filtering of rare and shared homozygous variants revealed a novel homozygous missense variant (c.545C>T; p.Ala182Val) in a highly conserved homeobox domain of the NKX6-2 protein.

Our findings add a novel variant to the NKX6-2 mutation spectrum and support the evidence that homozygous variants in the NKX6-2 cause progressive spastic ataxia associated with other abnormalities.

Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES. A case report.

J Gene Med

The development of Whole-Exome sequencing (WES) and Whole-Genome sequencing (WGS) for clinical purpose allows now to identify multiple pathogenic variants in a patient with a rare disease. Even when a single causative gene was initially suspected. We present here the case of an 8-year-old patient, with global developmental delay and dysmorphic features, with possibly pathogenic variant in 3 distinct genes.

Trio based exome sequencing was performed thanks to IntegraGen SA (Evry, France), on Illumina HiSeq4000 (Illumina, San Diego, California). Sanger sequencing was performed to confirm variants found.

WES showed the presence of three possibly deleterious variants: KMT2A: c.9068delA;p.Gln3023Argfs*3 de novo, PAX3: c.530C>G ;p.Ala177Gly de novo and DLG3: c.127delG;p.Asp43Metfs*22 hemizygous inherited from the mother. KMT2A pathogenic variants are involved in Wiedemann-Steiner syndrome, and PAX3 is the gene responsible for Waardenburg syndrome. DLG3 variants have been described in a non-syndromic X-related intellectual disability.

Considering the dysmorphic features and intellectual disability presented by this patient, these three variants were therefore imputed as pathogenic and their association responsible for his phenotype. Dual molecular diagnoses were already found by WES in several cohorts (Yang et al. Posey et al., Rossi & al.) with an average of diagnostic yield of 7%. This case demonstrates and reminds us of the importance of analyzing exomes rigorously and exhaustively because it can explain in some cases (<10%) superimposed traits or blended phenotypes.

Zinc Finger Protein 750(ZNF750), Negatively Regulated by miR-17-5p, Inhibits Proliferation, Motility and Invasion of Colonic Cancer Cells.

J Gene Med

To investigate the expression, function and clinical implication of zinc finger protein 750 (ZNF750) in colonic cancer and to explore the mechanism of its dysregulation.

The expression of ZNF750 in 76 pairs of colonic cancer tissues was determined using immunohistochemistry. The expression of ZNF750 in colonic cancer cells was detected using Western blot. The correlation between the expression level of ZNF750 and clinicopathological parameters in the patients with colonic cancer was analyzed using chi-square test. CCK-8 assay and colony formation assay were used to monitor cell proliferation. Additionally, flow cytometry was used to detect apoptosis of cells; scratch healing assay and Transwell assay were conducted to evaluate the migration and invasion of cells. Ultimately, the binding relationship between miR-17-5p and ZNF750 was validated using Western blot, real-time PCR and Dual-luciferase reporter gene assay.

The expression level of ZNF750 in colonic cancer tissues as well as colonic cancer cell lines was significantly down-regulated. Low expression of ZNF750 was associated with larger tumor size and poor tumor differentiation. The over-expression of ZNF750 inhibited the proliferation, motility and invasion but promoted the apoptosis of colonic cancer cells. After the cells were transfected with miR-17-5p mimics, the expression of ZNF750 at both mRNA and protein levels was remarkably decreased, while the expression of ZNF750 was markedly increased after the transfection of miR-17-5p inhibitors. MiR-17-5p could suppresses the malignant biological behaviors via negatively regulating ZNF750.

ZNF750 is negatively regulated by miR-17-5p, and it inhibits the progression of colonic cancer.

The roles of neuron-NG2 glia synapses in promoting oligodendrocyte development and remyelination.

Cell and Tissue Research

NG2 immunopositive progenitor cells, also simply termed as NG2 glia and thought mainly to be oligodendrocyte precursor cells (OPCs), form synaptic ...

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq.

Genet Med

RNA-seq is a promising approach to improve diagnoses by detecting pathogenic aberrations in RNA splicing that are missed by DNA sequencing. RNA-seq is typically performed on clinically accessible tissues (CATs) from blood and skin. RNA tissue specificity makes it difficult to identify aberrations in relevant but nonaccessible tissues (non-CATs). We determined how RNA-seq from CATs represent splicing in and across genes and non-CATs.

We quantified RNA splicing in 801 RNA-seq samples from 56 different adult and fetal tissues from Genotype-Tissue Expression Project (GTEx) and ArrayExpress. We identified genes and splicing events in each non-CAT and determined when RNA-seq in each CAT would inadequately represent them. We developed an online resource, MAJIQ-CAT, for exploring our analysis for specific genes and tissues.

In non-CATs, 40.2% of genes have splicing that is inadequately represented by at least one CAT; 6.3% of genes have splicing inadequately represented by all CATs. A majority (52.1%) of inadequately represented genes are lowly expressed in CATs (transcripts per million (TPM) < 1), but 5.8% are inadequately represented despite being well expressed (TPM > 10).

Many splicing events in non-CATs are inadequately evaluated using RNA-seq from CATs. MAJIQ-CAT allows users to explore which accessible tissues, if any, best represent splicing in genes and tissues of interest.

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Genet Med

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Troy D. Zars: a personal tribute to a scientist, colleague, and friend.

Journal of Neurogenetics

I knew Troy for nearly 15 years, and in that time I don't recall hearing any childhood stories like those in seemingly every personal statement I'v...

Memory, anticipation, action - working with Troy D. Zars.

Journal of Neurogenetics

We present here our reflections on the scientific work of the late Troy D. Zars (1967 - 2018), on what it was like to work with him, and what it me...

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.


Hereditary spastic paraplegias (HSP) are a group of rare neurodegenerative diseases characterized by progressive spastic paraparesis. UBAP1 was rec...