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Topic Review
ZMYM2 Gene
Zinc finger MYM-type containing 2
  • 1.1K
  • 24 Dec 2020
Topic Review
Chromosome 3
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 3, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Myelodysplastic Syndromes (MDS)
Myelodysplastic syndromes (MDS) comprise a group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, one or more peripheral cytopenias, single or multilineage dysplasia in the bone marrow (BM), and an increased risk of progressing to acute myeloid leukemia (AML), occurring eventually in approximately 30% of the cases, more rapidly in higher risk patients.
  • 1.1K
  • 05 May 2021
Topic Review
Cytogenetic Variability in Festuca (Poaceae)
Polyploidy has played an important evolutionary role in the genus Festuca (Poaceae), and several ploidy levels (ranging from 2n = 2x = 14 to 2n = 12x = 84) have been detected to date. Our understanding of ploidy diversity has greatly improved over the last two decades owing to the usage of flow cytometry (FCM). This valuable method makes it possible to not only estimate the genome size in a large number of individuals and populations but also infer ploidy levels. FCM has been used successfully in Festuca and its use is very useful in detecting a possible overlooked cytogenetic diversity that is generally manifested in the morphological variability exhibited in some of its taxa.
  • 1.1K
  • 18 Feb 2022
Topic Review
PWS-Associated Genes, Their Imprinting, and Expression Pattern
Prader–Willi syndrome (PWS, OMIM #176270) and Schaaf–Yang syndrome (SYS, OMIM #615547) are rare autosomal-dominant, imprinted genetic disorders caused by the loss of one or more normally active paternal genes in the chromosomal region of 15q11-q13, called the PWS region.
  • 1.1K
  • 31 Aug 2023
Topic Review
X-linked Hyper IgM Syndrome
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males.
  • 1.1K
  • 24 Dec 2020
Topic Review
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.
  • 1.1K
  • 25 Dec 2020
Topic Review
Estimation of Genetic Ancestry
Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. 
  • 1.1K
  • 09 Jul 2021
Topic Review
Spastic Paraplegia Type 11
Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Hereditary Angioedema
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway.
  • 1.1K
  • 23 Dec 2020
Topic Review
Pallister-Killian Mosaic Syndrome
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.
  • 1.1K
  • 24 Dec 2020
Topic Review
Primary Macronodular Adrenal Hyperplasia
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.
  • 1.1K
  • 24 Dec 2020
Topic Review
Duchenne and Becker Muscular Dystrophy
Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.
  • 1.1K
  • 24 Dec 2020
Topic Review
MMUT Gene
Methylmalonyl-CoA mutase
  • 1.1K
  • 04 Jan 2021
Topic Review
Timothy Syndrome
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body, including the fingers and toes, teeth, nervous system, and immune system.
  • 1.1K
  • 23 Dec 2020
Topic Review
Bosma Arhinia Microphthalmia Syndrome
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.
  • 1.1K
  • 24 Dec 2020
Topic Review
Angelman Syndrome
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
  • 1.1K
  • 24 Dec 2020
Topic Review
Xeroderma Pigmentosum
Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum.  
  • 1.1K
  • 24 Dec 2020
Topic Review
DEPDC5 Gene
DEP Domain Containing 5
  • 1.1K
  • 24 Dec 2020
Topic Review
Bone in Inherited Endocrine Tumors
Endocrine tumors are neoplasms originating from specialized hormone-secreting cells. They can develop as sporadic tumors, caused by somatic mutations, or in the context of familial Mendelian inherited diseases. Congenital forms, manifesting as syndromic or non-syndromic diseases, are caused by germinal heterozygote autosomal dominant mutations in oncogenes or tumor suppressor genes.
  • 1.1K
  • 30 Aug 2021
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