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Topic Review
Chromosome 7
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 7, one copy inherited from each parent, form one of the pairs.
  • 1.3K
  • 24 Dec 2020
Topic Review
The NFX1 Gene
The official name of the gene NFX1 in humans (Gene ID 4799 at NCBI) is Nuclear Transcription Factor, X-box binding 1. It is also known as NF-X1, NFX-1, NF.X1, NFX2, Tex42, and TEG-42 in the literature. For clarity, we will use the italicized term NFX1 for the human gene, and we will use NFX1 or isoform-specific names when discussing the human gene products. Regardless of this nomenclature, NFX1 has homologs across species. 
  • 1.3K
  • 05 May 2021
Topic Review
Blepharocheilodontic Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
  • 1.3K
  • 24 Dec 2020
Topic Review
EDAR Gene
Ectodysplasin A receptor: The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor. 
  • 1.3K
  • 24 Dec 2020
Topic Review
Dandy-Walker Malformation
Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.
  • 1.3K
  • 24 Dec 2020
Topic Review
Piebaldism
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair.
  • 1.3K
  • 21 Feb 2021
Topic Review
Repetitive Elements in Humans
Repetitive DNA in humans is still widely considered to be meaningless, and variations within this part of the genome are generally considered to be harmless to the carrier. In contrast, for euchromatic variation, one becomes more careful in classifying inter-individual differences as meaningless and rather tends to see them as possible influencers of the so-called ‘genetic background’, being able to at least potentially influence disease susceptibilities. Here, the known ‘bad boys’ among repetitive DNAs are reviewed. Variable numbers of tandem repeats (VNTRs = micro- and minisatellites), small-scale repetitive elements (SSREs) and even chromosomal heteromorphisms (CHs) may therefore have direct or indirect influences on human diseases and susceptibilities. Summarizing this specific aspect here for the first time should contribute to stimulating more research on human repetitive DNA. It should also become clear that these kinds of studies must be done at all available levels of resolution, i.e., from the base pair to chromosomal level and, importantly, the epigenetic level, as well.
  • 1.3K
  • 03 Mar 2021
Topic Review
FGFR3 Gene
Fibroblast growth factor receptor 3: The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. 
  • 1.3K
  • 25 Dec 2020
Topic Review
Genetic Therapy for Spina Bifida
Spina bifida (SB) is the most common congenital defect of the central nervous system. Despite family history being a risk factor for SB development, recurrence patterns are not attributed to a single genetic locus. Instead, SB is a complex trait caused by a combination of variants at multiple loci and involving multiple genes.
  • 1.3K
  • 24 Jun 2022
Topic Review
Structure and Function of UHRF1
Cancer is one of the leading causes of death worldwide, and its incidence and mortality are increasing each year. Improved therapeutic strategies against cancer have progressed, but remain insufficient to invert this trend. Along with several other risk factors, abnormal genetic and epigenetic regulations play a critical role in the initiation of cellular transformation, as well as tumorigenesis. The epigenetic regulator UHRF1 (ubiquitin-like, containing PHD and RING finger domains 1) is a multidomain protein with oncogenic abilities overexpressed in most cancers. Through the coordination of its multiple domains and other epigenetic key players, UHRF1 regulates DNA methylation and histone modifications. This well-coordinated dialogue leads to the silencing of tumor-suppressor genes (TSGs) and facilitates tumor cells’ resistance toward anticancer drugs, ultimately promoting apoptosis escape and uncontrolled proliferation. Several studies have shown that the downregulation of UHRF1 with natural compounds in tumor cells induces the reactivation of various TSGs, inhibits cell growth, and promotes apoptosis.
  • 1.3K
  • 24 Aug 2023
Topic Review
TNXB Gene
Tenascin XB: The TNXB gene provides instructions for making a protein called tenascin-X.
  • 1.3K
  • 25 Dec 2020
Topic Review
HBA2 Gene
Hemoglobin subunit alpha 2
  • 1.3K
  • 22 Dec 2020
Topic Review
TCHH Gene
Trichohyalin: The TCHH gene provides instructions for making a protein called trichohyalin. This protein is primarily found in hair follicles, which are specialized structures in the skin where hair growth occurs.
  • 1.3K
  • 24 Dec 2020
Topic Review
JAK2 Gene
Janus kinase 2
  • 1.3K
  • 04 Jan 2021
Topic Review
CRISPR/Cas Derivatives
The field of genome editing started with the discovery of meganucleases (e.g. the LAGLIDADG family of homing endonucleases) in yeast. After the discovery of transcription activator-like effector nucleases and zinc finger nucleases, the recently discovered CRISPR/Cas system has opened a new window of applications in the field of gene editing. Here, we review different Cas proteins and their corresponding features including advantages and disadvantages and we provide an overview of the different dCas derivatives. These dCas derivatives consist of an endonuclease-deficient Cas9 which can be fused to different effector domains to perform distinct in vitro applications such as tracking, transcriptional activation and repression, as well as base editing. Finally, we review the in vivo applications of these dCas derivatives and discuss their potential to perform gene activation and repression in vivo, as well as their potential future use in human therapy.
  • 1.3K
  • 29 Oct 2020
Topic Review
PAX3 Gene
paired box 3
  • 1.3K
  • 25 Dec 2020
Topic Review
CARASIL
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.
  • 1.3K
  • 04 Jan 2021
Topic Review
ADNFLE
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.
  • 1.3K
  • 04 Jan 2021
Topic Review
Alzheimer Disease
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.
  • 1.3K
  • 24 Dec 2020
Topic Review
CA12 Gene
carbonic anhydrase 12
  • 1.3K
  • 24 Dec 2020
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