Results 51 to 60 of about 2,863,419 (210)

Genetics of lactase deficiency in Russia

Problems of Nutrition
The ability to digest lactose in adulthood is caused by a genetic mutation that emerged following the domestication of cattle approximately 10 000 years ago. However, many adults retain primary lactase deficiency - the ancestral phenotype characterized by a decline in lactase enzyme activity after weaning.
E.V. Kovalenko, E.O. Vergasova, O.O. Shoshina, M.S. Sheludchenko, Ia.V. Popov, A.A. Kim, N.A. Plotnikov, A.S. Rakitko, O.I. Volokh   +8 more
openaire   +2 more sources

Primary Lactase Deficiency: Genetic or Acquired?

Gastroenterology, 1970
From a critical review of the literature, it would appear that, in animals, intestinal lactase is an adaptive enzyme, with adaptation occurring in 5–8 weeks. In man, short-term attempts at adaptation have not been successful, although a fall in lactase activity or lactose absorption has been found after substrate withdrawal in some subjects.
T D, Bolin, A E, Davis
openaire   +3 more sources

Genetic variants of lipid transport genes, dyslipidaemia and coronary heart disease. [PDF]

, 1997
PhDCoronary heart disease (CHD) is one of the most common causes of death in Western Countries. Genetic factors playa major role in the aetiology of CHD, however, the primary defects responsible for the disease have not been identified in most cases ...
Zhang, Qiuping
core   +4 more sources

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy [PDF]

, 2023
Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide.
Giovanna Gallo, Alessandro Rossi, Maria Grazia Fisco, Margherita Ruoppolo, Alagia, Marianna, Giulia Frisso, Cristina Mazzaccara, Terrone, Gaetano, Barretta, Ferdinando, Fabiana Uomo, Daniela Crisci, Gaetano Terrone, Fecarotta, Simona, Gallo, Giovanna, Simona Fecarotta, Uomo, Fabiana, Albano, Lucia, Ruoppolo, Margherita, Ferdinando Barretta, Mazzaccara, Cristina, Lucia Albano, Giancarlo Parenti, Daniela Dottore Stagna, Alessandra Verde, Crisci, Daniela, Fisco, Maria Grazia, Verde, Alessandra, Parenti, Giancarlo, Frisso, Giulia, Maria Rosaria Pricolo, Rossi, Alessandro, Marianna Alagia, Dottore Stagna, Daniela, Pricolo, Maria Rosaria   +33 more
core   +1 more source

Deficiency of the splicing factor RBM10 limits EGFR inhibitor response in EGFR-mutant lung cancer

The Journal of Clinical Investigation, 2022
Molecularly targeted cancer therapy has improved outcomes for patients with cancer with targetable oncoproteins, such as mutant EGFR in lung cancer. Yet, the long-term survival of these patients remains limited, because treatment responses are typically ...
Shigeki Nanjo, Wei Wu, Niki Karachaliou, Collin M. Blakely, Junji Suzuki, Yu-Ting Chou, Siraj M. Ali, D. Lucas Kerr, Victor R. Olivas, Jonathan Shue, Julia Rotow, Manasi K. Mayekar, Franziska Haderk, Nilanjana Chatterjee, Anatoly Urisman, Jia Chi Yeo, Anders J. Skanderup, Aaron C. Tan, Wai Leong Tam, Oscar Arrieta, Kazuyoshi Hosomichi, Akihiro Nishiyama, Seiji Yano, Yuriy Kirichok, Daniel S.W. Tan, Rafael Rosell, Ross A Okimoto, Trever G. Bivona   +27 more
doaj   +1 more source

Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency

Journal of Rawalpindi Medical College
Objective: To perform clinical and genetic investigations in two patients suffering from Artemis deficiency with total deficiency of T-B- lymphocytes. Methods: We enrolled a Pakistani family with one male patient suffering from Severe Combined Immune ...
Saddaf Ayub, Abeerah Zainub, Nida Shafi, Zara Khalid Khan, Lubna Siddique, Syed Irfan Raza   +5 more
doaj   +1 more source

Genetic testing for Alpha1-antitrypsin deficiency [PDF]

Genetics in Medicine, 2004
The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha1-antitrypsin deficiency.In the study, 996 adult individuals requested and returned a home-administered, confidential, fingerstick blood test.Individuals highly rated the benefits of establishing a diagnosis (82%), helping family ...
Charlie, Strange, Ryan, Dickson, Cindy, Carter, Matthew J, Carpenter, Brian, Holladay, Ryan, Lundquist, Mark L, Brantly   +6 more
openaire   +2 more sources

Development of an interpretable machine learning model associated with genetic indicators to identify Yin-deficiency constitution

Chinese Medicine
Background Traditional Chinese Medicine (TCM) defines constitutions which are relevant to corresponding diseases among people. As one of the common constitutions, Yin-deficiency constitution influences a number of Chinese population in the disease onset.
Jing Li, Yingying Zhai, Yanqi Cao, Yifan Xia, Ruoxi Yu   +4 more
doaj   +1 more source

Genetic Deficiencies of Hyaluronan Degradation

Cells
Hyaluronan (HA) is a large polysaccharide that is broadly distributed and highly abundant in the soft connective tissues and embryos of vertebrates. The constitutive turnover of HA is very high, estimated at 5 g per day in an average (70 kg) adult human, but HA turnover must also be tightly regulated in some processes.
Stephen P. Fink, Barbara Triggs-Raine
openaire   +3 more sources

Genetikai kórképek hazai roma populatióban = Genetic disorders in Romani population [PDF]

, 2006
1. Biotinidase defektusos újszülöttek szűrése a betegek molekuláris genetikai analysise magyar kaukazoid és roma populatioban.Eredmények:Hazai vizsgálatok: 58 családban vizsgáltuk a specifikus biotinidáz enzymaktivitást a kiszűrt enzymhiányos családokban,
Béres, Judit, Karcagi, Veronika, Varga, Tibor, László, Aranka, Szabó, János   +4 more
core   +1 more source