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Topic Review
Chromosome 6
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs.
  • 934
  • 24 Dec 2020
Topic Review
Costeff Syndrome
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision impairment that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
  • 934
  • 24 Dec 2020
Topic Review
Retrospective Genetic Analysis in Sweet Watermelon
Understanding the genetic basis of a crop’s qualitative and quantitative traits is vital to designing market preferred varieties. Sweet watermelon [Citrullus lanatus (Thunb.) Matsum. and Nakai var. lanatus; 2n = 2x = 22] is an important cucurbit crop belonging to the family Cucurbitaceae of the genus Citrullus. 
  • 934
  • 21 Jul 2022
Topic Review
Lowe Syndrome
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.
  • 934
  • 24 Dec 2020
Topic Review
MT-ND4 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
  • 933
  • 23 Dec 2020
Topic Review
DRD5 Gene
Dopamine Receptor D5
  • 933
  • 24 Dec 2020
Topic Review
FHL1 Gene
Four and a half LIM domains 1
  • 933
  • 25 Dec 2020
Topic Review
Sialidosis
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
  • 933
  • 25 Dec 2020
Topic Review
NSD2 Gene
nuclear receptor binding SET domain protein 2
  • 933
  • 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.
  • 932
  • 24 Dec 2020
Topic Review
FANCC Gene
FA complementation group C
  • 932
  • 25 Dec 2020
Topic Review
FTCD Gene
Formimidoyltransferase cyclodeaminase
  • 932
  • 25 Dec 2020
Topic Review
PAX8 Gene
paired box 8
  • 932
  • 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. 
  • 932
  • 11 Jan 2024
Topic Review
SOX9
SRY-box 9
  • 931
  • 24 Dec 2020
Topic Review
Arthrogryposis
Arthrogryposis (arth = joint; grp = curved; osis = pathological state) describes a broad range of phenotypes consisting of multiple congenital joint contractures presenting at birth. About 1 in 3000 live births presents with some form of arthrogryposis, many of which are nonprogressive and improve with physiotherapy. The core root of arthrogryposis is fetal akinesia, or lack of fetal movement, that results in contractures forming in the joints. 
  • 931
  • 21 Jun 2021
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.
  • 931
  • 20 Jun 2023
Topic Review
UGT1A1 Gene
UDP glucuronosyltransferase family 1 member A1.
  • 930
  • 23 Dec 2020
Topic Review
FAS Gene
Fas cell surface death receptor
  • 930
  • 25 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.  
  • 930
  • 25 Dec 2020
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