Results 81 to 90 of about 59,142 (275)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Anthropometric Study of Human Ear: A Baseline Data for Ear Reconstruction [PDF]

Background: Creation of an auricular framework plays the main role on first stage of microtia reconstruction. The size of framework is determined based on the size of the contralateral healthy ear and customized with Nagata theory.
Arif Tri Prasetyo, Arif, Indri Lakhsmi Putri, Indri   +1 more
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

APPLICATION OF DIFFERENT SOURCES AND DOSES OF BORON IN THE CORN CROP

Revista de Agricultura Neotropical, 2020
One of the main problems faced in corn cultivation, especially in Cerrado regions, is the deficiency of micronutrients. Among the micronutrients essential for the development of plants, boron (B) stands out for participating in a series of physiological ...
Angela Oliveira Silva, Wilian Henrique Diniz Buso   +1 more
doaj   +1 more source

Summary of the associations detected by GWAS, based on individual SNPs, for leaf angle (LA), ear height (EH), plant height (PH) and the EH/PH ratio, evaluated in inbred lines of tropical maize over two growing seasons.

, 2019
Summary of the associations detected by GWAS, based on individual SNPs, for leaf angle (LA), ear height (EH), plant height (PH) and the EH/PH ratio, evaluated in inbred lines of tropical maize over two growing seasons.
Carlos Maldonado (5527520), Freddy Mora (3713212), Marlon Coan (5833880), Carlos A. Scapim (6429569)   +3 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Summary of the haplotypes associated with the traits of leaf angle (LA), ear height (EH), plant height (PH) and the EH/PH ratio, measured in inbred lines of tropical maize during two growing seasons (2014–2015 and 2015–2016).

, 2019
Summary of the haplotypes associated with the traits of leaf angle (LA), ear height (EH), plant height (PH) and the EH/PH ratio, measured in inbred lines of tropical maize during two growing seasons (2014–2015 and 2015–2016).
Carlos Maldonado (5527520), Freddy Mora (3713212), Marlon Coan (5833880), Carlos A. Scapim (6429569)   +3 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Experimental and numerical analysis verification of effect of work material in cylindrical deep drawing focusing on material anisotropy and die radius shape

Manufacturing Review
This paper presents the effect of work material on the formed shape in a cylindrical deep drawing using a die with circumferentially varying die radius dimensions.
Muraoka Tsuyoshi, Okude Yusuke, Nakamura Isao, Katagiri Takashi   +3 more
doaj   +1 more source

Gnome 2 as a Donor of Short Stem Characteristic for Winter Rye (Secale cereale L.).

Plant Varieties Studying and Protection, 2011
Stabilizing (centripetal) breeding produced donor of short stem characteristic for winter rye (Secale cereale L.) with height of plants ranging from cm 50 to 60.
В. В. Скорик
doaj   +1 more source