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Topic Review
ABCC9 Gene
ATP binding cassette subfamily C member 9
  • 763
  • 24 Dec 2020
Topic Review
ENPP1 Gene
Ectonucleotide pyrophosphatase/phosphodiesterase 1: The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). 
  • 763
  • 24 Dec 2020
Topic Review
Familial Pityriasis Rubra Pilaris
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.
  • 763
  • 25 Dec 2020
Topic Review
HADHA Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
  • 762
  • 22 Dec 2020
Topic Review
Oral-Facial-Digital Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).
  • 762
  • 24 Dec 2020
Topic Review
Renal Tubular Dysgenesis
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth.
  • 762
  • 24 Dec 2020
Topic Review
Hystrix-Like Ichthyosis with Deafness
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
  • 761
  • 23 Dec 2020
Topic Review
SLC11A2 Gene
solute carrier family 11 member 2
  • 761
  • 24 Dec 2020
Topic Review
Donnai-Barrow Syndrome
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
  • 761
  • 24 Dec 2020
Topic Review
F9 Gene
Coagulation Factor IX: The F9 gene provides instructions for making a protein called coagulation factor IX. 
  • 761
  • 25 Dec 2020
Topic Review
Hearing Loss Caused by KCNQ1 and KCNQ4 Variants
Deafness-associated genes KCNQ1 (also associated with heart diseases) and KCNQ4 (only associated with hearing loss) encode the homotetrameric voltage-gated potassium ion channels Kv7.1 and Kv7.4, respectively. To date, over 700 KCNQ1 and over 70 KCNQ4 variants have been identified in patients. The vast majority of these variants are inherited dominantly, and their pathogenicity is often explained by dominant-negative inhibition or haploinsufficiency.
  • 761
  • 12 Oct 2022
Topic Review
Multiple Pterygium Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
  • 760
  • 23 Dec 2020
Topic Review
LRP2 Gene
LDL receptor related protein 2
  • 760
  • 23 Dec 2020
Topic Review
BTD Gene
biotinidase
  • 760
  • 24 Dec 2020
Topic Review
EHMT1 Gene
Euchromatic histone lysine methyltransferase 1: The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. 
  • 760
  • 24 Dec 2020
Topic Review
Centronuclear Myopathy
Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
  • 759
  • 24 Dec 2020
Topic Review
Null cyp1b1 Activity in Zebrafish
CYP1B1 is a cytochrome P450 monooxygenase involved in oxidative metabolism of different endogenous lipids and drugs. The loss of function (LoF) of this gene underlies many cases of recessive primary congenital glaucoma (PCG), an infrequent disease and a common cause of infantile loss of vision in children. CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the ocular iridocorneal angle; however, the underlying molecular mechanisms are poorly understood.
  • 759
  • 04 Aug 2021
Topic Review
lncRNAs as Clinical Biomarkers in Clinical Practice
Given their tumor-specific and stage-specific gene expression, long non-coding RNAs (lncRNAs) have demonstrated to be potential molecular biomarkers for diagnosis, prognosis, and treatment response. Particularly, the lncRNAs DSCAM-AS1 and GATA3-AS1 serve as examples of this because of their high subtype-specific expression profile in luminal B-like breast cancer. This makes them candidates to use as molecular biomarkers in clinical practice. However, lncRNA studies in breast cancer are limited in sample size and are restricted to the determination of their biological function, which represents an obstacle for its inclusion as molecular biomarkers of clinical utility. Nevertheless, due to their expression specificity among diseases, such as cancer, and their stability in body fluids, lncRNAs are promising molecular biomarkers that could improve the reliability, sensitivity, and specificity of molecular techniques used in clinical diagnosis. The development of lncRNA-based diagnostics will be useful in routine medical practice to improve patient clinical management and quality of life.
  • 759
  • 04 May 2023
Topic Review
EXOSC3 Gene
Exosome component 3: The EXOSC3 gene provides instructions for making a protein known as exosome component 3. 
  • 759
  • 24 Dec 2020
Topic Review
MLH1 Gene
mutL homolog 1
  • 758
  • 22 Dec 2020
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