1964
DOI: 10.1016/0030-4220(64)90506-7
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Hereditary gingival fibromatosis

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Cited by 82 publications
(14 citation statements)
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“…Although sharing some similar syndromes, TBS and ZLS patients show distinct features: the former is characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toes [101, 102], and the latter is characterized by gingival enlargement, intellectual disability, hypoplasia or absence of all nails and terminal phalanges, and hypertrichosis and associated with or without epilepsy [103105], respectively. Using whole-exome sequencing (WES) technique, Simons et al [23] and Kortüm et al [21] almost simultaneously connected the genetic causes of ZLS and TBS to EAG1 channel gain-of-mutations.…”
Section: Eag1 Channel Dysfunction In Genetic Neurological Diseasementioning
confidence: 99%
“…Although sharing some similar syndromes, TBS and ZLS patients show distinct features: the former is characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toes [101, 102], and the latter is characterized by gingival enlargement, intellectual disability, hypoplasia or absence of all nails and terminal phalanges, and hypertrichosis and associated with or without epilepsy [103105], respectively. Using whole-exome sequencing (WES) technique, Simons et al [23] and Kortüm et al [21] almost simultaneously connected the genetic causes of ZLS and TBS to EAG1 channel gain-of-mutations.…”
Section: Eag1 Channel Dysfunction In Genetic Neurological Diseasementioning
confidence: 99%
“…Authors have agreed that there is more sub-epithelial fibroblast proliferation and greater collagen and fibronectin synthesis and, at the same time, a reduction in the matrix metalloproteinases (MMPs) entrusted with collagen degradation (4,8-12). …”
Section: Introductionmentioning
confidence: 99%
“…The rise in TGFß1 leads to increased proliferation of fibroblasts, which remain phenotypically activated synthesizing collagen and fibronectin. This would cause an imbalance between the synthesis and degradation of extracellular matrix molecules (3,5,8-12). …”
Section: Introductionmentioning
confidence: 99%
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“…[2] The familial variation may occur with a number of other inherited syndromes when it could be associated with some of the following; for e.g., Zimmerman Laband syndrome,[1112] Murray Puretic drescher (juvenile hyaline fibromatosis),[13] Rutherfurd, Cross, Cowden syndrome, multiple hamartomas, tuberous sclerosis. [614]…”
Section: Introductionmentioning
confidence: 99%