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Topic Review
FTCD Gene
Formimidoyltransferase cyclodeaminase
  • 926
  • 25 Dec 2020
Topic Review
Genetics for Obesity Prevention and Treatment
Obesity is a common, serious, and costly disease. Obesity-related conditions include heart disease, stroke, type 2 diabetes, and certain types of cancer. These are among the leading causes of preventable, premature death. Obesity is considered the result of a complex interaction between genes and the environment. Both genes and the environment change in different populations. Expression of these genes involves different epigenetic processes, such as DNA methylation, histone modification, or non-coding micro-RNA synthesis, as well as variations in the gene sequence, which results in functional alterations.
  • 926
  • 20 Jun 2023
Topic Review
FANCC Gene
FA complementation group C
  • 925
  • 25 Dec 2020
Topic Review
DPYS Gene
Dihydropyrimidinase
  • 925
  • 04 Jan 2021
Topic Review
Glycerol Kinase Deficiency
Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research branch classifies GKD as a rare disease, known to affect fewer than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD.
  • 925
  • 19 Oct 2022
Topic Review
Up-Frameshift Protein 1 in Human Disorders
Up-frameshift protein 1 (UPF1) plays the role of a vital controller for transcripts, ready to react in the event of an incorrect translation mechanism. It is well known as one of the key elements involved in mRNA decay pathways and participates in transcript and protein quality control in several different aspects. Firstly, UPF1 specifically degrades premature termination codon (PTC)-containing products in a nonsense-mediated mRNA decay (NMD)-coupled manner. Additionally, UPF1 can potentially act as an E3 ligase and degrade target proteins independently from mRNA decay pathways. Thus, UPF1 protects cells against the accumulation of misfolded polypeptides. However, this multitasking protein may still hide many of its functions and abilities.
  • 925
  • 18 May 2023
Topic Review
Lowe Syndrome
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.
  • 924
  • 24 Dec 2020
Topic Review
CHMP2B-Related Frontotemporal Dementia
CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.
  • 924
  • 24 Dec 2020
Topic Review
Dopa-responsive Dystonia
Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa.
  • 924
  • 24 Dec 2020
Topic Review
Emanuel Syndrome
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.  
  • 924
  • 25 Dec 2020
Topic Review
LINC00493/SMIM26 and Its Dual Functioning
In the present study, we investigate the widely expressed lncRNA LINC00493. We determine the structure of the LINC00493 transcript, its cell localization and influence on cell physiology. Our data demonstrate that LINC00493 has an influence on cell viability in a cell-type-specific manner. Furthermore, it was recently shown that LINC00493 has a sORF that is translated into small protein SMIM26. The results of our knockdown and overexpression experiments suggest that both LINC00493/SMIM26 transcript and protein affect cell viability, but in the opposite manner. 
  • 924
  • 20 Aug 2021
Topic Review
UGT1A1 Gene
UDP glucuronosyltransferase family 1 member A1.
  • 923
  • 23 Dec 2020
Topic Review
XPC Gene
XPC complex subunit, DNA damage recognition and repair factor: the XPC gene provides instructions for making a protein that is involved in repairing damaged DNA. 
  • 923
  • 24 Dec 2020
Topic Review
POMC Gene
proopiomelanocortin
  • 923
  • 25 Dec 2020
Topic Review
Histone and Oncohistone Characterization via Yeast Models
Understanding the molecular basis of cancer initiation and progression is critical in developing effective treatment strategies. Mutations in genes encoding histone proteins that drive oncogenesis have been identified, converting these essential proteins into “oncohistones”. Understanding how oncohistone mutants, which are commonly single missense mutations, subvert the normal function of histones to drive oncogenesis requires defining the functional consequences of such changes. Histones genes are present in multiple copies in the human genome with 15 genes encoding histone H3 isoforms, the histone for which the majority of oncohistone variants have been analyzed thus far. With so many wildtype histone proteins being expressed simultaneously within the oncohistone, it can be difficult to decipher the precise mechanistic consequences of the mutant protein. In contrast to humans, budding and fission yeast contain only two or three histone H3 genes, respectively. Furthermore, yeast histones share ~90% sequence identity with human H3 protein. Its genetic simplicity and evolutionary conservation make yeast an excellent model for characterizing oncohistones. 
  • 923
  • 11 Jan 2024
Topic Review
CHRNB2 Gene
cholinergic receptor nicotinic beta 2 subunit
  • 922
  • 24 Dec 2020
Topic Review
Pontocerebellar Hypoplasia
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.
  • 921
  • 24 Dec 2020
Topic Review
MMACHC Gene
metabolism of cobalamin associated C
  • 920
  • 22 Dec 2020
Topic Review
21-hydroxylase deficiency
21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 920
  • 23 Dec 2020
Topic Review
5q31.3 Microdeletion Syndrome
5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
  • 920
  • 23 Dec 2020
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