scholarly journals An Adjacent Pair of Human NUDT Genes on Chromosome X Are Preferentially Expressed in Testis and Encode Two New Isoforms of Diphosphoinositol Polyphosphate Phosphohydrolase

2002 ◽  
Vol 277 (36) ◽  
pp. 32730-32738 ◽  
Author(s):  
Kiyoshi Hidaka ◽  
James J. Caffrey ◽  
Len Hua ◽  
Tong Zhang ◽  
J. R. Falck ◽  
...  
Keyword(s):  
Chromosome X ◽  
Adjacent Pair ◽  
Diphosphoinositol Polyphosphate

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

Efficiency of Tranexamic Acid in Management of Surgical Orthopedic Bleeding in Patients with Haemophilia

2017 ◽  
Vol 68 (3) ◽  
pp. 627-630 ◽  
Author(s):  
Oana Viola Badulescu ◽  
Razvan Tudor ◽  
Wilhelm Friedl ◽  
Mihaela Blaj ◽  
Paul Dan Sirbu
Keyword(s):  
Tranexamic Acid ◽  
Orthopaedic Surgery ◽  
Enzymatic Degradation ◽  
Point Of View ◽  
Factor Ix ◽  
Haemophilia A ◽  
Chromosome X ◽  
Risk Of Bleeding ◽  
Subchondral Bone Tissue ◽  
Knee Endoprosthesis

Haemophilia is an inherited bleeding disorder (gonosomala recessive, related to chromosome X, with transmission from carrying women to male descendents) characterised from the clinic point of view by important bleeding, secondary to some minimum and biologic traumas by deficiency of trombo-plastino-formation, consecutive to either a deficit of factor VIII (haemophilia A), or the factor IX (haemophilia B). The most characteristic manifestation of hemophilia is intra-articular � hemarthrosis. Its repetitive character leads to irreversible lesions of the articular structures, inducing lesions of the synovium with degenerative effects over the articular cartilage and destructive effects for the subchondral bone tissue. In time, these lesions require orthopaedic surgery to improve the locomotor activity. Managing an efficient hemostasis is vital during surgery, due to high risk of bleeding triggered by coagulopathy and surgery. Numerous studies carried out underlined the efficiency of the tranexamic acid (TXA) in reducing bleeding, in different surgery branches, by inhibiting the enzymatic degradation of fibrin. In orthopaedic surgery, the tranexamic acid is frequently used in case of hip and knee arthroplasties, reducing the bleeding and blood transfusion necessary to the treatment of posthaemorrhagic anemia. This paper wants to assess the efficiency of the tranexamic acid in realization of hemostasis to another category of patients, haemophiliac patients with indication of total hip and knee endoprosthesis.

scholarly journals Transporteurs ABC peroxysomaux et adrénoleucodystrophie liée au chromosome X

2012 ◽  
Vol 28 (12) ◽  
pp. 1087-1094 ◽  
Author(s):  
Flore Geillon ◽  
Doriane Trompier ◽  
Catherine Gondcaille ◽  
Gérard Lizard ◽  
Stéphane Savary
Keyword(s):  
Chromosome X

scholarly journals Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Weiyin Zhou ◽  
Shu-Hong Lin ◽  
Sairah M. Khan ◽  
Meredith Yeager ◽  
Stephen J. Chanock ◽  
...  
Keyword(s):  
X Chromosome ◽  
Gene Dosage ◽  
Large Population ◽  
Population Based ◽  
Chromosome X ◽  
Genotyping Array ◽  
Chromosome Mosaicism ◽  
Age Related ◽  
Leukocyte Function ◽  
Peripheral Leukocytes

AbstractAge-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a population-based survey of 196,219 UK Biobank men. We detected 12 (0.006%) men with mosaic chromosome X gains ≥ 2 Mb and found no evidence for mosaic chromosome X loss, a level of detection substantially lower than for autosomes or other sex chromosomes. The rarity of chromosome X mosaicism in males relative to females reflects the importance of chromosome X gene dosage for leukocyte function.

scholarly journals Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

1994 ◽  
Vol 91 (26) ◽  
pp. 12803-12807 ◽  
Author(s):  
M. Vihinen ◽  
D. Vetrie ◽  
H. S. Maniar ◽  
H. D. Ochs ◽  
Q. Zhu ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Structural Basis ◽  
Chromosome X

Femoral Hypoplasia—Unusual Fades Syndrome and Chromosome X Trisomy

1980 ◽  
Vol 73 (12) ◽  
pp. 1669-1670 ◽  
Author(s):  
ADJETEY LOMO ◽  
VERLE HEADINGS
Keyword(s):  
Chromosome X ◽  
Femoral Hypoplasia

Chromosome X numerical abnormalities in patients with Non-Hodgkin's Lymphoma

1995 ◽  
Vol 82 (1) ◽  
pp. 23-29 ◽  
Author(s):  
Anas Younes ◽  
David Jendiroba ◽  
Ruth Katz ◽  
Debbie Hill ◽  
Fernando Cabanillas ◽  
...  
Keyword(s):  
Hodgkin’S Lymphoma ◽  
Hodgkin's Lymphoma ◽  
Chromosome X ◽  
Non Hodgkin’S Lymphoma ◽  
Non Hodgkin's Lymphoma
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