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INHBP encodes a member of the immunoglobulin-like domain-containing superfamily. Zusätzlich bieten wir Ihnen Inhibin Binding Protein Antikörper (63) und Inhibin Binding Protein Proteine (11) und viele weitere Produktgruppen zu diesem Protein an.
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A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity.
We identified a novel insertion mutation in the IGSF1 gene and further delineated the phenotype of the IGSF1-deficiency syndrome. Our findings indicate a possible association between an IGSF1 mutation and neurological phenotypes.
Individuals with identical IGSF1 deletions can exhibit variable pituitary hormone deficiencies, of which overt TSH deficiency is the most consistent feature
IGSF1 Deficiency is associated with X-linked IGSF1 deficiency syndrome.
Adult male patients with IGSF1 deficiency exhibit mild deficits in attentional control on formal testing.
This case suggests that more attention should be paid to intrauterine growth and birth history when patients are suspected of having an IGSF1 mutation
There is insufficient evidence to conclude that the three observed VUCSs in IGSF1 are associated with CDGP, making it unlikely that IGSF1 mutations are a prevalent cause of CDGP.
Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue.
Data suggest male subjects with IGSF1 deficiency syndrome exhibit X-linked congenital/central hypothyroidism, delayed puberty, macro-orchidism, hypoprolactinemia, metabolic syndrome, and transient partial growth hormone deficiency. [CASE REPORTS]
Our findings provide additional genetic evidence that loss-of-function mutations in IGSF1 cause an X-linked form of C-CH and variable prolactin (zeige PRL ELISA Kits) deficiency.
Contrary to earlier predictions, neither the murine nor rat IGSF1-2 is secreted from heterologous or homologous cells. In addition, neither protein associates with the plasma membrane. Rather, IGSF1-2 appears to be retained in the endoplasmic reticulum.
Igsf1-deficient males exhibit normal serum TSH levels as well as normal numbers of TSH-expressing thyrotropes. However, pituitary expression of the TSH subunit genes and TSH protein content are reduced, as is expression of the receptor for thyrotropin-releasing hormone (TRH (zeige TRH ELISA Kits)
This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.
immunoglobulin superfamily member 1
, immunoglobulin-like domain-containing protein 1
, inhibin-binding protein
, pituitary gland-specific factor 2
, betaglycan and inhibin binding protein
, inhibin binding protein