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Topic Review
NFKBIA Gene
NFKB inhibitor alpha
  • 720
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal).  
  • 720
  • 23 Dec 2020
Topic Review
CYB5R3 Gene
Cytochrome B5 Reductase 3: The CYB5R3 gene provides instruction for making an enzyme called cytochrome b5 reductase 3. 
  • 720
  • 01 May 2021
Topic Review
BOLA3 Gene
bolA family member 3
  • 720
  • 24 Dec 2020
Topic Review
Iron-Refractory Iron Deficiency Anemia
Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.
  • 719
  • 23 Dec 2020
Topic Review
COL4A3 Gene
collagen type IV alpha 3 chain
  • 719
  • 24 Dec 2020
Topic Review
Vocal Deficits in Parkinson’s Disease
This reviews vocalization deficits in models of Parkinson disease.
  • 719
  • 29 Jul 2021
Topic Review
Cytogenetic Abnormalities of Extramedullary Multiple Myeloma
Extramedullary multiple myeloma (or extramedullary disease, EMD) is an aggressive form of multiple myeloma (MM) that occurs when malignant plasma cells become independent of the bone marrow microenvironment. This may occur alongside MM diagnosis or in later stages of relapse and confers an extremely poor prognosis. In the era of novel agents and anti-myeloma therapies, the incidence of EMD is increasing, making this a more prevalent and challenging cohort of patients. Therefore, understanding the underlying mechanisms of bone marrow escape and EMD driver events is increasingly urgent. 
  • 719
  • 11 Jul 2023
Topic Review
GLRA1 Gene
Glycine receptor alpha 1
  • 718
  • 23 Dec 2020
Topic Review
Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes.
  • 718
  • 23 Dec 2020
Topic Review
LZTR1 Gene
Leucine zipper like transcription regulator 1
  • 718
  • 23 Dec 2020
Topic Review
RAD21 Gene
RAD21 cohesin complex component
  • 718
  • 23 Dec 2020
Topic Review
Corticosterone Methyloxidase Deficiency
Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).
  • 718
  • 24 Dec 2020
Topic Review
Mitochondrial Genomes of Bivalve Mollusks
Doubly uniparental inheritance (DUI) of mitochondrial DNA (mtDNA) in bivalve mollusks is one of the most notable departures from the paradigm of strict maternal inheritance of mtDNA among metazoans.
  • 718
  • 23 Aug 2021
Topic Review
USH2A Gene
Usherin.
  • 717
  • 23 Dec 2020
Topic Review
MAGT1 Gene
Magnesium transporter 1
  • 717
  • 23 Dec 2020
Topic Review
Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.
  • 717
  • 24 Dec 2020
Topic Review
Preimplantation Genetic Testing for Monogenic Disorders
Preimplantation genetic tests have a broad range of applications, conceptually divisible into two main areas: inherited disorders, where alterations can be found in the parents (PGT-M and PGT-SR), and de novo conditions, i.e., not inherited, as in the case of PGT-A. The objective of PGT-M testing is to avoid transferring embryos affected by a specific monogenic disease. This can only be achieved by selecting embryos that either do not carry the mutation or are healthy carriers (in the case of recessive diseases), as may occur in patients with a positive family or personal history for a monogenic condition. This necessitates a preliminary study tailored to each couple, involving family members. In general, PGT-M can be applied to the diagnosis of all hereditary monogenic diseases for which the responsible gene has been identified, one or two index cases are available, and a diagnostic linkage analysis protocol can be developed. Conversely, it is not indicated in cases of large gene deletions/duplications or de novo triplet expansions since the phasing of the at-risk haplotype is not feasible.
  • 717
  • 27 Nov 2023
Topic Review
Abdominal Wall Defect
An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis.
  • 716
  • 04 Feb 2021
Topic Review
Dentatorubral-pallidoluysian Atrophy
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
  • 716
  • 24 Dec 2020
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