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BRCA1 and Breast Cancer: a Review of the Underlying Mechanisms Resulting in the Tissue-Specific Tumorigenesis in Mutation Carriers

Semmler L, Reiter-Brennan C, Klein A

Since the first cloning of BRCA1 in 1994, many of its cellular interactions have been elucidated. However, its highly specific role in tumorigenesis in the breast tissue—carriers of BRCA1 mutations...
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Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2

Kim YO, Lee YY, Kim MK, Woo YJ

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex...
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Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Seo GH, Kang E, Cho JH, Lee BH, Choi JH, Kim GH, Seo EJ, Yoo HW

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis....
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Role of Endoplasmic Reticulum Stress in Rheumatoid Arthritis Pathogenesis

Park YJ, Yoo SA, Kim WU

Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by abnormal proliferation of synoviocytes, leukocyte infiltration, and angiogenesis. The endoplasmic reticulum (ER) is the site of biosynthesis for all secreted...
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Genetic syndromes associated with overgrowth in childhood

Ko JM

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology...
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Glucose Transporter Type 1 Deficiency Syndrome

Kim SK

  • KMID: 2329511
  • J Korean Child Neurol Soc.
  • 2007 Nov;15(2):131-141.
D-glucose is an essential fuel for metabolism in mammalian cells and the predominant fuel source for the brain. Transport of glucose across tissue barriers is mediated by stereospecific transporter proteins....
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Screening of the Single Nucleotide Polymorphisms in the Protamine 1 and 2 Genes of Korean Infertile Men

Lee HS, Choi HW, Park YS, Seo JT, Koong MK, Jun JH

  • KMID: 1864691
  • Korean J Fertil Steril.
  • 2005 Sep;32(3):279-286.
OBJECTIVE: Although several genetic factors have been associated with defects in human spermatogenesis, the unambiguous causative genes have not been elucidated. The male infertility by haploinsufficiency of PRM1 or PRM2...
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A Case of Leri-Weill Syndrome

Eun SE, Park HJ, Jung MH, Lee BC

  • KMID: 2144625
  • J Korean Soc Pediatr Endocrinol.
  • 2001 Dec;6(2):165-170.
Leri-Weill syndrome or Leri-Weill dyschondrosteosis represents a short stature syndrome that is characterized by symmetric shortening of the forearms and lower legs and a bilateral shortening and bowing of the...
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