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UnknownKenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
Not available
S-EPMC11721953 | biostudies-literature
ProteomicsActivation of FAM111A Protease Induces Defects in Nuclear Function that Likely Underlie its Roles in Disease and Viral Restriction
Mutations in the nuclear trypsin-like serine protease FAM111A cause Kenny-Caffey syndrome (KCS2) with hypoparathyroidism and skeletal dysplasia, or perinatally lethal osteocraniostenosis (OCS). In addition, FAM111A was identified as a restriction factor for certain host range mutants of the SV40 pol...
ORGANISM(S): Homo sapiens (Human) 
2020-11-25 | PXD020327 | Pride
Fam111a Sv40polyomavirus Kcs2 Vacv Mass spectrometry Ocs 
UnknownExpanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Not available
S-EPMC10438882 | biostudies-literature
UnknownFAM111A induces nuclear dysfunction in disease and viral restriction.
Not available
S-EPMC7857424 | biostudies-literature
UnknownCase report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
Not available
S-EPMC9846794 | biostudies-literature
UnknownOphthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.
Not available
S-EPMC7396477 | biostudies-literature
UnknownA Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.
Not available
S-EPMC12846312 | biostudies-literature
TranscriptomicsTranscription profiling of human thyrocytes stably expressing wild type RET/PTC1 oncogene or RET/PTC1 carrying Y451F mutation and parental thyrocytes
Mass populations of thyrocytes stably expressing wild type RET/PTC1 oncogene or RET/PTC1 carrying Y451F mutation and parental thyrocytes were used for hybridization on Affymetrix HG-U133A and HG-U133B chips. For each cell condition were generated two different targets (indicated as two different sam...
ORGANISM(S): Homo sapiens 
2005-09-30 | E-MEXP-429 | biostudies-arrayexpress
UnknownClinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report.
Not available
S-EPMC10131010 | biostudies-literature
UnknownQuantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.
Not available
S-EPMC11949059 | biostudies-literature
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