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Topic Review
Lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
  • 950
  • 24 Dec 2020
Topic Review
TAT Gene
Tyrosine aminotransferase: The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. 
  • 950
  • 24 Dec 2020
Topic Review
AGTR1 Gene
angiotensin II receptor type 1
  • 950
  • 24 Dec 2020
Topic Review
FLT3
Fms related tyrosine kinase 3
  • 950
  • 25 Dec 2020
Topic Review
MMAA Gene
metabolism of cobalamin associated A
  • 949
  • 22 Dec 2020
Topic Review
Glycogen Storage Disease Type VI
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.
  • 949
  • 23 Dec 2020
Topic Review
Lenz Microphthalmia Syndrome
Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.
  • 949
  • 23 Dec 2020
Topic Review
Ataxia with Oculomotor Apraxia
Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.
  • 949
  • 24 Dec 2020
Topic Review
FUS Gene
FUS RNA binding protein
  • 949
  • 25 Dec 2020
Topic Review
Senior-Løken Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
  • 949
  • 25 Dec 2020
Topic Review
DNA Methylation in Neurodegenerative Diseases
DNA methylation is critical for the normal development and functioning of the human brain, such as the proliferation and differentiation of neural stem cells, synaptic plasticity, neuronal reparation, learning, and memory. Despite the physical stability of DNA and methylated DNA compared to other epigenetic modifications, some DNA methylation-based biomarkers have translated into clinical practice. Increasing reports indicate a strong association between DNA methylation profiles and various clinical outcomes in neurological diseases, such as neurodegenerative diseases.
  • 949
  • 15 Nov 2022
Topic Review
Hydrodynamics-Based Transplacental Delivery of CRISPR/Cas9
We previously demonstrated that transplacental gene delivery (TPGD) method combined with CRISPR/Cas9 system can manipulate fetal genome in situ. Recently, we examined whether the endogenous gene (myosin heavy-chain α, MHCa) can be genome-edited by TPGD in the absence of a gene delivery reagent with potential fetal toxicity. For this, we employed a hydrodynamics-based gene delivery (HGD) system with the aim of ensuring biosafety. We also investigated which embryonic stages are suitable for the induction of genome editing in fetuses. As the results, it was indicated that the HGD-based TPGD of a genome editing vector enables to manipulate the fetal genomes.
  • 948
  • 29 Oct 2020
Topic Review
1q21.1 microduplication
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
  • 948
  • 23 Dec 2020
Topic Review
RAF1 Gene
Raf-1 proto-oncogene, serine/threonine kinase
  • 948
  • 23 Dec 2020
Topic Review
X-linked Lissencephaly with Abnormal Genitalia
X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males.  
  • 948
  • 24 Dec 2020
Topic Review
Popliteal Pterygium Syndrome
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.
  • 948
  • 24 Dec 2020
Topic Review
Gillespie Syndrome
Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.
  • 947
  • 23 Dec 2020
Topic Review
Abetalipoproteinemia
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.
  • 947
  • 23 Dec 2020
Topic Review
Combined Malonic and Methylmalonic Mciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.
  • 947
  • 24 Dec 2020
Topic Review
Blau Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
  • 947
  • 24 Dec 2020
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