Results 71 to 80 of about 69,264 (288)

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

Association Between Vitamin D Levels and Developmental Status in Short-Stature Children

Children
Background: The first two years of life are crucial for child growth and development, and short stature is a common issue influenced by nutritional deficiencies. This study aimed to determine the relationship between vitamin D levels and short stature in
Mia Milanti Dewi, Akhmad Imron, Nelly Amalia Risan, Grace Mediana Purnami, Raden Tina Dewi Judistiani, Budi Setiabudiawan   +5 more
doaj   +1 more source

Economic inequality in prevalence of underweight and short stature in children and adolescents: the weight disorders survey of the CASPIAN-IV study

Archives of Endocrinology and Metabolism, 2020
Objective: The aim of this study was to determine the determinants of socio-economic inequality in the prevalence of short stature and underweight in Iranian children and adolescents.
Ramin Heshmat, Mostafa Qorbani, Nafiseh Mozafarian, Shirin Djalalinia, Ali Sheidaei, Morteza Mansourian, Nastaran Hajizadeh, Mohammad Esmaeil Motlagh, Hamid Asayesh, Armita Mahdavi-Gorabi, Roya Kelishadi   +10 more
doaj   +1 more source

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

, 2018
Abdulaziz Alsemari,1 Mohanned Alsuhaibani,2 Rawabi Alhathlool,1 Bayan Mamdouh Ali1 1Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; 2Department of Radiology, King Faisal Specialist Hospital and ...
Ali BM, Alsemari A, Alsuhaibani M, Alhathlool R   +3 more
core  

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

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

Improved short stature rice

California Agriculture, 1976
When California rice growers established objectives for the research they have helped support for seven years, they expressed need for varieties with short stature for greater lodging resistance, early maturity (to facilitate harvest before fall rains ...
J Rutger, M Peterson
doaj  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Nineteenth Century Stature and Family Size: Binding Constraint or Productive Labor Force? [PDF]

The use of height data to measure living standards is now a well-established method in economics. Nevertheless, a neglected area in historical stature studies is the relationship between stature and family size, and statures are documented here to be ...
Scott A. Carson
core  

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre‐mRNA splicing

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li, Guiying Shi, Jiaming Tang, Yiying Huang, Jie Wang, Xuepei Lei, Lin Bai   +6 more
wiley   +1 more source