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Topic Review
Char Syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.
  • 884
  • 24 Dec 2020
Topic Review
RYR2 Gene
ryanodine receptor 2
  • 884
  • 24 Dec 2020
Topic Review
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.
  • 884
  • 24 Dec 2020
Topic Review
SLC5A1 Gene
solute carrier family 5 member 1
  • 884
  • 24 Dec 2020
Topic Review
LTBP4 in Health and Disease
Latent transforming growth factor β (TGFβ)-binding protein (LTBP) 4, a member of the LTBP family, shows structural homology with fibrillins. Both these protein types are characterized by calcium-binding epidermal growth factor-like repeats interspersed with 8-cysteine domains. Based on its domain composition and distribution, LTBP4 is thought to adopt an extended structure, facilitating the linear deposition of tropoelastin onto microfibrils. In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, and valvular heart disease. LTBP4 is an essential regulator of TGFβ signaling and is related to development, immunity, injury repair, and diseases, playing a central role in regulating inflammation, fibrosis, and cancer progression.
  • 884
  • 07 Jun 2021
Topic Review
Duckweed Species in Saudi Arabia
Duckweeds, or Lemnaceae, are widespread aquatic plants. Morphology-based identification of duckweed species is difficult because of their structural complexity. Hence, molecular tools provide significant advantages for characterizing and selecting species or clones for sustainable commercial use.
  • 884
  • 18 Nov 2021
Topic Review
MMP2 Gene
matrix metallopeptidase 2
  • 884
  • 22 Dec 2020
Topic Review
Hypochondrogenesis
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  • 883
  • 23 Dec 2020
Topic Review
Legius Syndrome
Legius syndrome is a condition characterized by changes in skin coloring (pigmentation).
  • 883
  • 23 Dec 2020
Topic Review
STXBP1 Encephalopathy
STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy).
  • 883
  • 24 Dec 2020
Topic Review
FOLR1 Gene
Folate receptor 1
  • 883
  • 25 Dec 2020
Topic Review
TRNT1 Gene
tRNA nucleotidyl transferase 1: The TRNT1 gene provides instructions for making a protein involved in the production (synthesis) of other proteins.
  • 883
  • 25 Dec 2020
Topic Review
FGF23 Gene
Fibroblast growth factor 23
  • 883
  • 04 Jan 2021
Topic Review
Exosomal microRNA in Pancreatic Cancer
Pancreatic cancer is a highly aggressive and lethal malignancy mostly due to its late-stage presentation. This malignancy is difficult to diagnose, monitor, and treat, hence the development of novel diagnostic and prognostic biomarkers and better therapeutic strategies are urgently needed. Several groundbreaking discoveries over the past decade on cancer-associated exosomes demonstrated an association between exosomal miRNA and the development, progression, and therapy-resistance of pancreatic cancer.
  • 883
  • 29 Jun 2021
Topic Review
Globozoospermia
Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).
  • 882
  • 23 Dec 2020
Topic Review
Leber Congenital Amaurosis
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
  • 882
  • 23 Dec 2020
Topic Review
Larsen Syndrome
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family.
  • 882
  • 23 Dec 2020
Topic Review
CDC73 Gene
cell division cycle 73
  • 882
  • 24 Dec 2020
Topic Review
CLN1 Disease
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.
  • 882
  • 24 Dec 2020
Topic Review
CPT1A Gene
carnitine palmitoyltransferase 1A
  • 882
  • 24 Dec 2020
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