Results 241 to 250 of about 533,788 (306)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Impedance cardiography parameters reflecting left ventricular function are markers of pulmonary arterial hypertension. [PDF]

Front Cardiovasc Med
Wentao Y, Yumiao W, Luanluan Y, Xin L, Xiaopei C.   +4 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

[Expression of Concern] Alterations in left ventricular function during intermittent hypoxia: Possible involvement of O-GlcNAc protein and MAPK signaling. [PDF]

Int J Mol Med
Guo X, Shang J, Deng Y, Yuan X, Zhu D, Liu H.   +5 more
europepmc   +1 more source

Impact of High-Risk Pregnancy on Peripartum Left Ventricular Function. [PDF]

Circ Rep
Komoriya Y, Komamura K, Miyake H, Umeda H, Kobayashi K, Ishiki R, Oguchi H, Murohara T, Iwase M.   +8 more
europepmc   +1 more source

Comprehensive Assessment of Left Ventricular Function and Exercise Endurance in Patients with Hypertrophic Cardiomyopathy: The Combined Application of Left Ventricular Pressure-Strain Loop and Cardiopulmonary Exercise Testing.

Cardiology
Lin Y, Hou S, Lin J, Zhang T, Wu B, Wu Q, Qiu S, Chen J, Chen D, Huang J.   +9 more
europepmc   +1 more source

Left Ventricular Function and Echocardiographic Parameters in Patients Undergoing Chemotherapy With 5-Fluorouracil, Anthracycline, Taxotere, and Herceptin: Prospective Cohort Study. [PDF]

Health Sci Rep
Moghadam AA, Fazaeli SH, Kamandi M.
europepmc   +1 more source

The Influence of Gender on Long-Term Cardiovascular Outcomes in Patients Undergoing Percutaneous Coronary Intervention for Acute Myocardial Infarction and the Association with Cardiac Left Ventricular Function. [PDF]

Diagnostics (Basel)
Ruddox V, Norum I, Hjelmesæth J, Edvardsen T, Otterstad JE.   +4 more
europepmc   +1 more source

Assessment of left ventricular function in patients with diabetic nephropathy using two-dimensional speckle-tracking echocardiography. [PDF]

Front Endocrinol (Lausanne)
Zhang X, Jiang C, Ye Z, Zhang Y, Zhang X.   +4 more
europepmc   +1 more source

Assessment of Left Ventricular Function in Patients with Metabolic Syndrome: A Strain Imaging Study.

J Cardiovasc Echogr
Elnoamany MF, Sultan GM, Selim EAM, Zein FEA.   +3 more
europepmc   +1 more source