Results 81 to 90 of about 207,744 (307)

Characterization of native FGF23 protein and mutant forms causing autosomal dominant hypophosphatemic rickets and familial tumoral calcinosis [PDF]

, 2005
The regulation of phosphate metabolism is a complex process that is still only partly understood. At the end of the eighties, studies in a mouse model for hypophosphatemic rickets provided evidence that phosphate wasting could not be explained by a ...
Benet-Pagès, Anna, Benet-Pagès, A.
core  

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

, 2013
This article is free to read on the publishers website\ud \ud In humans, congenital spinal defects occur with an incidence of 0.5-1 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal dysostosis (SCD). Over the past
Sparrow, Duncan B., Leo, Paul J., Duncan, Emma L., Chapman, Deborah L., Brown, Matthew A., McInerney-Leo, Aideen, Gardiner, Brooke, Gucev, Zoran S., Marshall, Mhairi, Dunwoodie, Sally L., Shishko, Abduhadi, Tasic, Velibor   +11 more
core   +1 more source

Large‐Scale Genomics Reveals Three‐Source Ancestry and Layered Adaptation to High Altitude in Tibetan Chickens

Advanced Science, EarlyView.
Whole‐genome analysis of 1,054 chickens reveals three ancestral sources (NWC, SYA, and SHF) with distinct temporal entry patterns into the Tibetan Plateau. Route‐specific selection scans, calibrated against a demographic null, suggest complementary functional enrichments—vascular homeostasis (NWC), calcium signaling and cardiac adaptation (SYA), and ...
Zongyi Zhao, Ruixue Nie, Hailu Fan, Tenzin Ngodroup, Li Zhu, Hongbin Pan, Bo Zhang, Hao Zhang   +7 more
wiley   +1 more source

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, EarlyView.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene.

, 2006
Item does not contain fulltextBACKGROUND: Autosomal-dominant isolated GH deficiency (IGHD) is a rare disorder that is commonly believed to be due to heterozygous mutations in the GH-1 gene (GH-1).
Mullis, Primus E, Salvatori, R., Salemi, Souzan, Ubertini, G., Ubertini, Graziamaria, Otten, B.J., Fintini, D., Fintini, Danilo, Mullis, P.E., Cambiaso, P., Otten, Barto, Salemi, S., Salvatori, Roberto, Cambiaso, Paola   +13 more
core   +1 more source

Advances in Gastric Cancer Research: Insights Into Carcinogenesis, the Tumor Microenvironment, Metastasis, and Factors Influencing Prognosis

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background The Department of Gastroenterological Surgery at Kumamoto University has maintained a commitment to integrating cutting‐edge clinical practice with fundamental research, particularly concerning malignant diseases of the digestive tract.
Hideo Baba, Takatsugu Ishimoto, Yoshifumi Baba, Hiromitsu Hayashi, Masaaki Iwatsuki   +4 more
wiley   +1 more source

Amelogenesis Imperfecta - An account of Three Generations affected in a Family

Journal of Indian Academy of Oral Medicine and Radiology, 2004
Amelogenesis Imperfecta is a hereditary condition affecting dental enamel without any systemic manifestation. This condition can be inherited as either Autosomal or X-linked.
G Sarat, Arindam Sarkar, S Suhas, Keerthilatha M Pail   +3 more
doaj  

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source