Search results for "ANKRD1"

showing 3 items of 3 documents

Human skeletal muscle type 1 fibre distribution and response of stress-sensing proteins along the titin molecule after submaximal exhaustive exercise.

2017

Early responses of stress-sensing proteins, muscle LIM protein (MLP), ankyrin repeat proteins (Ankrd1/CARP and Ankrd2/Arpp) and muscle-specific RING finger proteins (MuRF1 and MuRF2), along the titin molecule were investigated in the present experiment after submaximal exhaustive exercise. Ten healthy men performed continuous drop jumping unilaterally on a sledge apparatus with a submaximal height until complete exhaustion. Five stress-sensing proteins were analysed by mRNA measurements from biopsies obtained immediately and 3 h after the exercise from exercised vastus lateralis muscle while control biopsies were obtained from non-exercised legs before the exercise. Decreased maximal jump h…

0301 basic medicineANKRD2AdultMalemedicine.medical_specialtyANKRD1HistologyAdolescentVastus lateralis musclePhysical ExertionMuscle Proteinslihaksetmedicine.disease_causetuki- ja liikuntaelimet03 medical and health sciencesYoung Adult0302 clinical medicineJumpingHsp27Internal medicinemedicinestress-sensing proteinsHumanstitinConnectinMolecular BiologyExerciseurheiluvammatbiologySkeletal muscleCell BiologyAnatomyhuman skeletal muscleMedical Laboratory Technology030104 developmental biologymedicine.anatomical_structureEndocrinologyMuscle Fibers Slow-Twitchbiology.proteinexercise induced muscle damageTitinAnkyrin repeat030217 neurology & neurosurgeryHistochemistry and cell biology
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Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

2021

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Pediatricsmedicine.medical_specialtyKBGAdolescentseizureOutcome (game theory)ANKRD11EpilepsySeizuresIntellectual DisabilityMedicineHumansAbnormalities MultipleBone Diseases Developmentalbusiness.industryTooth AbnormalitiesFaciesHigh-Throughput Nucleotide SequencingGeneral MedicineKBG SYNDROMESyndromemedicine.diseaseKBG syndromeRepressor ProteinsPhenotypeNeurologySlowing EEG activityANKRD11; KBG; Seizures; Slowing EEG activity; SyndromeFemaleNeurology (clinical)businessSeizure
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Adhesive capsulitis in a patient affected by KBG Syndrome

2021

Background and Case presentation: KBG syndrome is a multiple congenital anomaly syndrome with variable presentation. Many physical anomalies also affect the orthopaedic field. We present a case of a young woman with diagnosis of KBG syndrome that is also affected by joint stiffness and adhesive capsulitis to the shoulders. Discussion: Many other cases have been reported to present joint stiffness and formation of keloids. Adhesive capsulitis is known to be related to autoimmune pathologies and endocrinological disorders. KBG syndrome is caused by heterozygous mutation in ANKRD11 gene and few patients with hypermobility of the joints have also been reported. Conclusions: The KBG syndrome mig…

ShoulderRare DiseasesAdhesive CapsulitisAdhesive Capsulitis; ANKRD11; KBG syndrome; Rare Diseases; ShoulderANKRD11KBG syndrome
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