Results 181 to 190 of about 7,749,428 (298)

The impact of gestational diabetes mellitus on mid-pregnancy and infant cardiac morphology and function: A prospective cohort study. [PDF]

J Int Med Res
Guo C, Zhou J, Jin B, Feng L, Ge Z, Xu Y.   +5 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Clinical Significance of Echocardiographic Parameters in Patients with Pulmonary Hypertension Associated with Interstitial Lung Disease. [PDF]

J Cardiovasc Dev Dis
Kato S, Kodama S, Azuma M, Fukui K, Kitamura H, Okuda R, Baba T, Kinoshita M, Iwasawa T, Sawamura S, Yasuda N, Utsunomiya D, Ogura T.   +12 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

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

Long-Term Effects of Right Ventricular Pressure and Volume Overload: A Comparative Analysis in an Ovine Model. [PDF]

J Clin Med
Al Hussein H, Al Hussein H, Ghiragosian-Rusu SE, Gurzu S, Szodorai R, Sircuta C, Marusteri MS, Cordos B, Anitei DE, Atudorei A, Crisan S, Simionescu D, Brinzaniuc K.   +12 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

Characterizing Cardiovascular Function In The Inflammatory Subphenotypes of Acute Respiratory Distress Syndrome. [PDF]

Crit Care Explor
Chotalia M, Ali M, Chotalia R, Parekh D, Patel JM, Bangash MN.   +5 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Right ventricular function and exercise capacity in adults with congenital heart disease: Methodological caveats that temper the clinical message. [PDF]

Int J Cardiol Congenit Heart Dis
Kamal M.
europepmc   +1 more source