Results 21 to 30 of about 4,210 (197)

Cartilage-Hair Hypoplasia [PDF]

Mayo Clinic Proceedings, 2007
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive metaphyseal chondrodysplasia seen primarily in people of Amish and Finnish origin. It is characterized by disproportionately short stature; limb deformities; fine, sparse, light-colored hair; and immunodeficiency. The aberrant gene was recently mapped to chromosome 9p21-p13 (the ribonuclease
John B. Hagan, Damir Matesic
openaire   +3 more sources

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

Advanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Lihai Gong, Luowei Yuan, Yang Fu, Yulong Qiao, Ying Lam Lui, Nuo Chen, Pengfei Lin, Hoi Hung Cheung, Ho Ko, Linyan Meng, Xiao Chen, Yong Lei, Kin Ming Kwan, Huating Wang, Shen Gu   +18 more
wiley   +1 more source

Unilateral pulmonary hypoplasia in an adult

Medical Journal of Dr. D.Y. Patil University, 2016
Pulmonary hypoplasia is a bronchopulmonary foregut anomaly characterized by a decrease in the number or size of airways, vessels, and alveoli. Unilateral pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other ...
Akshay Ajit Shah, Anjali R Singh, Amit T Kharat   +2 more
doaj   +1 more source

A Novel Therapeutic Strategy for Bone Marrow Failure: Niche Rejuvenation Using Costal Cartilage‐Derived Stem Cells

Advanced Science, EarlyView.
CDSCs exhibit the potential to differentiate into endothelial cells, vascular pericytes, and osteoblasts. These differentiated cells are capable of secreting additional pro‐hematopoietic cytokines. Furthermore, CDSCs can inhibit apoptosis and reduce DNA damage in injured hematopoietic stem and progenitor cells (HSPCs, including RHSCs and RHPCs), while ...
Rui Dong, Zhiguo Ling, Pengyuan Fan, Debao Li, Jinsong Wang, Wenjiong Shi, Rui Zuo, Runfeng Chen, Xuemin Sun, Lang Xiao, Yushi Ran, Shucheng Huang, Yi Tian, Chao Zhang, Yuzhang Wu, Bing Ni, Yi Zhang   +16 more
wiley   +1 more source

MANAGING HYPOMINERALIZATION IN FIRST PERMANENT MOLARS: DIAGNOSIS TO TREATMENT APPROACHES

Romanian Journal of Oral Rehabilitation
The concept “Molar Incisor Hypomineralization” (MIH) was introduced in 2001 to specify enamel hypomineralization impacting one or more permanent first molars, commonly accompanied by the involvement of one or more permanent incisors.
Cosmin Gabriel Popa, Ioana Mârțu, Emanuela Crăciunescu, Diana Diaconu-Popa, Galina Pancu, Alexandra Jităreanu, Doriana Agop Forna, Oana Bejan, Carmen Savin   +8 more
doaj   +1 more source

ENAM mutations and digenic inheritance

Molecular Genetics & Genomic Medicine, 2019
Background ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective.
Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Shih‐Kai Wang, John Timothy Wright, Michael W. Havel, Chuhua Zhang, Jung‐Wook Kim, James P. Simmer, Jan C.‐C. Hu   +11 more
doaj   +1 more source

The Structural Adaptations That Mediate Disuse-Induced Atrophy of Skeletal Muscle

Cells, 2023
The maintenance of skeletal muscle mass plays a fundamental role in health and issues associated with quality of life. Mechanical signals are one of the most potent regulators of muscle mass, with a decrease in mechanical loading leading to a decrease in
Ramy K. A. Sayed, Jamie E. Hibbert, Kent W. Jorgenson, Troy A. Hornberger   +3 more
doaj   +1 more source

Hepatic KLF9 Deficiency Inhibits Dehydroepiandrosterone (DHEA)‐Induced Polycystic Ovary Syndrome via Liver‐Ovary Axis

Advanced Science, EarlyView.
The study shows that liver is a previously unrecognized extraovarian organ that plays a key role about androgen homeostasis in the development of DHEA‐induced PCOS. DHEA is the most common precursor of active androgen, such as DHT, and KLF9 is required for the conversion of DHEA to DHT and hepatic KLF9 might be a potential therapeutic target for PCOS ...
Jianli Song, Zhaoqing Guan, Guiyi Ji, Jing Wang, Xiurui Yan, Yujie Zhang, Yinliang Zhang, Chunfang Ha, Rong Hu, Yongsheng Chang, Yaolin Zhang, Heng Fan   +11 more
wiley   +1 more source

Tooth marker of ecological abnormality: The interpretation of stress in extinct mega herbivores (proboscideans) of the Siwaliks of Pakistan

Ecology and Evolution, 2022
Climate affects living ecosystems and defines species physiology. Climate change causes certain stress on animals, recorded as Enamel Hypoplasia (EH). Proboscideans, the mega herbivores, were extensively represented in the Siwaliks of Pakistan between ...
Muhammad Ameen, Abdul Majid Khan, Rana Manzoor Ahmad, Muhammad Umar Ijaz, Muhammad Imran   +4 more
doaj   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source