Results 121 to 130 of about 303,058 (265)

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

Effect of home visiting support on maternal psychosocial needs and postnatal depression: emulating a target trial. [PDF]

BMJ Ment Health
Baba K, Narita ZC, Yamasaki S, Shinozaki T, Niimura J, Nakajima N, Yamaguchi S, Knowles G, Devylder J, Ayaya S, Kumagaya SI, Stanyon D, Oikawa N, Hosozawa M, Nakanishi M, Ando S, Kasai K, Miyashita M, Hiraiwa-Hasegawa M, Furukawa TA, Patel V, Sawyer SM, Nishida A.   +22 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

Factors associated with mother-to-infant bonding difficulties without prior postnatal depression at 1 and 6 months after childbirth: the Japan Environment and Children's Study (JECS). [PDF]

Arch Womens Ment Health
Inano H, Matsumura K, Tsuchida A, Inadera H, Shimada K, Hasegawa T, Japan Environment and Children’s Study (JECS) Group.   +6 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Lactational Serotonergic Perturbation Imprints Stress-Related Transcriptional Profiles in the Adolescent Female Rat Prefrontal Cortex. [PDF]

ACS Chem Neurosci
Gallo MT, Acquah AME, Sbabo L, Fumagalli F, Brivio P, Calabrese F.   +5 more
europepmc   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Association between postnatal mental health-related hospitalisation and child development and education outcomes: a systematic review and meta-analysis. [PDF]

Front Glob Womens Health
Belay DM, Dadi AF, Kassie YT, Bayih WA, Derseh B, Birhane BM, Leckning B, Guthridge S.   +7 more
europepmc   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Role of Prenatal Echocardiographic Diagnosis in Early Postnatal Management of Congenital Heart Disease at a Single Center Without Neonatal Cardiac Surgery. [PDF]

Yonago Acta Med
Mino Y, Harada T, Uemasu H, Yamasaki J, Shimizu K, Miyahara F, Imamoto A, Namba N.   +7 more
europepmc   +1 more source