Results 271 to 280 of about 11,580,920 (364)

Rare Diseases [PDF]

Future Medicinal Chemistry, 2014
openaire   +2 more sources

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

A Rare Manifestation of a Rare Disease: Nodular Lymphocyte-Predominant Hodgkin Lymphoma Presenting As Paraneoplastic Aseptic Meningitis. [PDF]

Cureus
Saripalli A, Deemer E, Fox K.
europepmc   +1 more source

Real‐Time Evolutionary Landscape of the Bronchial Epithelium and Corresponding Dynamic Immune Cell Alterations in Lung Squamous Cell Carcinogenesis

Advanced Science, EarlyView.
Lung squamous cell carcinoma (LUSC) is often preceded by sequential premalignant lesions with an increasing probability of malignant progression. Using single‐cell RNA sequencing, the dynamic cellular evolution from normal lung to LUSC tissues is delineated; clonal structure of premalignant and malignant epithelium is reveled; the conversion of immune ...
Baohong Luo, Yuting Luo, Sicheng Chen, Tiantian Yang, Bixia Liu, Xiting Liao, Xiaoke Zheng, Tian Tian, Jinxu Liu, Qinru Zhan, Xiaohua Situ, Zhongpeng Xie, Yanxia Wang, Zhe‐Sheng Chen, Honglei Chen, Zheng Yang, Zunfu Ke   +16 more
wiley   +1 more source

Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists. [PDF]

Clin Transl Sci
Ahmed MA, AbuAsal B, Barrett JS, Azer K, Hon YY, Albusaysi S, Shang E, Wang M, Burian M, Rayad N.   +9 more
europepmc   +1 more source

Cutaneous Sarcoidosis of the Scrotum: A Rare Manifestation of Systemic Disease

, 2002
Susan S. McLaughlin, Allison M. Linquist, Joseph W. Burnett   +2 more
openalex   +1 more source

Tumor‐Associated Sympathetic Nerves Promote the Progression of Epstein‐Barr Virus‐Positive Diffuse Large B‐Cell Lymphoma

Advanced Science, EarlyView.
Sympathetic nerve innervation promotes the progression of Epstein‐Barr virus‐positive diffuse large B‐cell lymphoma (EBV+ DLBCL) via β2‐adrenergic receptors. The discovery of enhanced nerve infiltration and β2AR expression reveals a novel mechanism and highlights the sympathetic–β2AR axis as a promising target for therapeutic intervention in EBV+ DLBCL.
Silan Huang, Dexin Lei, Linbin Yang, Aiwei Bi, Yanlou Wang, Peng Zhang, Dongyu Zhuang, Honglian Liu, Qingqing Cai, Man Nie, Yi Xia   +10 more
wiley   +1 more source

Rare disease, common struggles: quality of life, caregiver burden and financial wellbeing of family caregivers in Poland. [PDF]

Sci Rep
Domaradzki J, Jabkowski P, Walkowiak D.
europepmc   +1 more source

Rhinocerebral zygomycosis — diagnostic dilemma for emergency physician: is reduction in morbidity and mortality possible in this rare but deadly disease?

, 2002
Achyut Guleri, Srinivas Samavedam, Grace Corcoran   +2 more
openalex   +1 more source

Natural Allelic Variations in IbCHYR1–IbZnFR Complex Regulate Fusarium Root Rot Resistance in Sweet Potato

Advanced Science, EarlyView.
FfRlpA2, a conserved Fusarium effector, functions as a protease inhibitor by hijacking the E3 ubiquitin ligase IbCHYR1 to degrade the resistance factor IbZnFR, thereby promoting Fusarium pathogenicity. Conversely, the high dosage Pro::IbZnFRHap2 allele was associated with resistance to root rot disease.
Huan Zhang, Zhuoru Dai, Xiaochen Zhang, Meiqi Shang, Xiaoru Gao, Ruiqi Ma, Limeng Zhao, Xiaoli Zhang, Qingchang Liu, Hong Zhai, Shaopei Gao, Ning Zhao, Qinghe Cao, Qiang Li, Shaozhen He   +14 more
wiley   +1 more source