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Topic Review
Knobloch Syndrome
Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.
  • 617
  • 23 Dec 2020
Topic Review
RANBP2 Gene
RAN binding protein 2
  • 617
  • 23 Dec 2020
Topic Review
IL1A Gene
Interleukin 1 alpha
  • 616
  • 23 Dec 2020
Topic Review
Hypomagnesemia with Secondary Hypocalcemia
Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia).
  • 616
  • 23 Dec 2020
Topic Review
Helicobacter Heilmannii Sensu Lato
Helicobacter heilmannii sensu lato refers to a group of bacterial species within the Helicobacter genus. The Helicobacter genus consists of at least 40 species of spiral-shaped (also described as corkscrew-shaped) flagellated, Gram-negative bacteria of which the by far most prominent and well-known species is Helicobacter pylori (H. pylori). H. pylori is associated with the development of gastrointestinal tract diseases such as stomach inflammation, stomach ulcers, duodenal ulcers, stomach cancers that are not lymphomas, and various subtypes of extranodal marginal zone lymphomass, e.g. those of the stomach, small intestines, large intestines, and rectumn. H. pylori has also been associated with the development of bile duct cancer and has been associated with a wide range of other diseases although its role in the development of many of these other diseases requires further study. The H. heilmannii sensu lato species of bacteria take as part of their definition a similarity to H. pylori in being associated with the development of stomach inflammation, stomach ulcers, duodenal ulcers, stomach cancers that are not lymphomas, and extranodal marginal B cell lymphomas of the stomach. It is important to recognize and diagnose the association of H. heilmannii sensu lato with these upper gastrointestinal tract diseases, particularly extranodal marginal zone lymphoma of the stomach, because many of them have been successfully treated using antibiotic-based drug regimens directed against the instigating H. heilmannii sensu lato bacterial species.
  • 616
  • 27 Oct 2022
Topic Review
Mucolipidosis II Alpha/Beta
Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood.
  • 615
  • 23 Dec 2020
Topic Review
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time.
  • 612
  • 23 Dec 2020
Topic Review
RDH5 Gene
retinol dehydrogenase 5
  • 612
  • 23 Dec 2020
Topic Review
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder of early childhood onset, characterized principally by socio-communicative impairments and certain restricted behavioural patterns, but also associated with other neuropsychiatric and medical conditions. Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain tissue, most studies rely on estimates of mosaicism from peripheral samples.
  • 612
  • 21 Feb 2022
Topic Review
NLRP7 Gene
NLR family pyrin domain containing 7
  • 611
  • 23 Dec 2020
Topic Review
De-novo disease-causing variants in CDH
The genetic etiology of congenital diaphragmatic hernia (CDH), a common and severe birth defect, is still incompletely understood. Chromosomal aneuploidies, copy number variations (CNVs), and variants in a large panel of CDH-associated genes, both de novo and inherited, have been described. Due to impaired reproductive fitness, especially of syndromic CDH patients, and still significant mortality rates, the contribution of de novo variants to the genetic background of CDH is assumed to be high. This assumption is supported by the relatively low recurrence rate among siblings. Advantages in high-throughput genome-wide genotyping and sequencing methods have recently facilitated the detection of de novo variants in CDH. 
  • 611
  • 24 Sep 2021
Topic Review
Galactosialidosis
Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.
  • 610
  • 23 Dec 2020
Topic Review
Methylmalonic Acidemia with Homocystinuria
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol.
  • 608
  • 23 Dec 2020
Topic Review
NFU1 Gene
NFU1 iron-sulfur cluster scaffold
  • 608
  • 23 Dec 2020
Topic Review
LAMC2 Gene
Laminin subunit gamma 2
  • 608
  • 23 Dec 2020
Topic Review
Role of PAX7 in Muscular Dystrophies
Myogenesis is a series of progressive development of skeletal muscle tissue over a lifetime where myoblasts, the early mononucleated committed precursor cells of skeletal muscle fuse together and differentiate into myotubes, the multinucleated muscle cells that later undergo further differentiation and fusion to form myofibers. Myoblast heterogeneity stems from three types of myoblasts: embryonic, fetal, and adult myoblasts with distinct genetic backgrounds that are traditionally distinguished by desmin, myogenin (MyoG), and myosin heavy chain isoform (MyHC) expression. These myoblast transitions are thought to overlap at multiple points during myogenesis, due to the activation of several factors. Four myogenic regulatory factors (MRF), Myogenic factor 5 (Myf5), Mrf4, Myogenic Differentiation 1 (MyoD), and MyoG play critical roles in the precise differentiation of progenitor myoblasts into myofibers during embryonic-to-adult myogenesis. Pax7 is closely associated with myogenesis, which is governed by various signaling pathways throughout a lifetime and is frequently used as an indicator in muscle research. 
  • 608
  • 11 Sep 2023
Topic Review
KRT16 Gene
Keratin 16
  • 607
  • 23 Dec 2020
Topic Review
Neurohypophyseal Diabetes Insipidus
Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep.
  • 607
  • 23 Dec 2020
Topic Review
Ochoa Syndrome
Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.
  • 607
  • 24 Dec 2020
Topic Review
RPGR Gene
retinitis pigmentosa GTPase regulator
  • 607
  • 24 Dec 2020
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